SCN5A Variant L363F
Summary of observed carriers, functional annotations, and structural context for SCN5A L363F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
11%
0/10 effective observations
Estimated BrS1 penetrance
36%
3/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.894 | 49 | 10 |
PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
|---|---|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 0 | 0 | 0 | 0 | – | |
| Variant features alone | – | 15 | 12 | 0 | 3 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 364 | 4 | |
| 266 | 14 | L266H, |
| 901 | 13 | E901K, S901L, |
| 919 | 12 | |
| 276 | 14 | L276Q, L276P, |
| 363 | 0 | |
| 348 | 13 | P348A, |
| 360 | 6 | |
| 396 | 13 | V396A, V396L, |
| 894 | 14 | I894M, |
| 355 | 9 | F355C, F355I, |
| 372 | 10 | |
| 401 | 15 | S401P, |
| 356 | 12 | D356N, |
| 371 | 14 | Q371E, |
| 361 | 6 | |
| 904 | 8 | W904X, |
| 366 | 6 | |
| 260 | 15 | |
| 365 | 7 | |
| 376 | 14 | R376H, R376C, |
| 258 | 13 | V258A, |
| 354 | 9 | |
| 897 | 14 | G897R, G897E, G897R |
| 924 | 15 | V924I, |
| 1546 | 15 | M1546T, |
| 369 | 11 | M369K, |
| 911 | 14 | G911E, |
| 902 | 13 | |
| 349 | 13 | D349N, |
| 373 | 12 | |
| 267 | 15 | |
| 262 | 12 | S262G, |
| 357 | 10 | |
| 898 | 15 | |
| 921 | 14 | |
| 922 | 15 | V922I, |
| 272 | 14 | |
| 397 | 15 | I397F, I397V, I397T, |
| 362 | 5 | |
| 261 | 10 | |
| 920 | 9 | |
| 900 | 8 | |
| 392 | 15 | |
| 269 | 13 | |
| 918 | 13 | |
| 393 | 15 | |
| 917 | 11 | L917V, L917R, |
| 913 | 13 | |
| 916 | 8 | |
| 264 | 13 | |
| 912 | 11 | Q912R, |
| 347 | 13 | |
| 906 | 13 | |
| 351 | 11 | G351D, G351V, G351C, G351S, |
| 265 | 10 | A265V, |
| 374 | 14 | W374G, |
| 350 | 12 | H350Q, H350Q, |
| 358 | 10 | |
| 903 | 8 | p.M903CfsX29, |
| 367 | 6 | R367L, R367H, R367C, |
| 263 | 15 | V263I, |
| 359 | 7 | A359T, p.A359PfsX12, |
| 370 | 10 | T370M, |
| 923 | 12 | |
| 905 | 14 | |
| 352 | 9 | Y352C, |
| 915 | 12 | C915R, |
| 368 | 9 | |
| 899 | 8 | |
| 380 | 15 | |
| 268 | 12 | G268S, |
| 377 | 11 | |
| 908 | 15 | |
| 914 | 15 | |
| 257 | 14 | |
| 353 | 8 | T353I, |
| 907 | 10 |