SCN5A Variant P348H
Summary of observed carriers, functional annotations, and structural context for SCN5A P348H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/10 effective observations
Estimated BrS1 penetrance
22%
2/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 2 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 | 0.953 | 25 | 1 |
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 | 13 | 0 | 2 | – | – |
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 | 12 | |
| 277 | 8 | |
| 901 | 13 | E901K, S901L, |
| 326 | 13 | |
| 276 | 7 | L276Q, L276P, |
| 363 | 13 | |
| 348 | 0 | P348A, |
| 360 | 12 | |
| 279 | 8 | |
| 385 | 14 | A385T, |
| 355 | 11 | F355C, F355I, |
| 278 | 11 | H278D, H278R, |
| 356 | 12 | D356N, |
| 361 | 14 | |
| 904 | 10 | W904X, |
| 343 | 13 | |
| 327 | 14 | |
| 376 | 8 | R376C, R376H, |
| 384 | 11 | S384T, |
| 354 | 7 | |
| 378 | 14 | |
| 349 | 4 | D349N, |
| 373 | 13 | |
| 379 | 12 | |
| 1550 | 15 | |
| 357 | 14 | |
| 272 | 13 | |
| 341 | 15 | C341Y, |
| 274 | 11 | G274C, |
| 273 | 15 | |
| 325 | 8 | L325R, |
| 900 | 12 | |
| 324 | 9 | |
| 321 | 11 | S321Y, |
| 872 | 13 | D872N, |
| 345 | 9 | |
| 275 | 12 | N275K, N275K, |
| 383 | 11 | |
| 280 | 12 | C280Y, |
| 323 | 8 | |
| 347 | 4 | |
| 382 | 14 | |
| 351 | 6 | G351S, G351C, G351V, G351D, |
| 320 | 14 | T320N, |
| 350 | 7 | H350Q, H350Q, |
| 903 | 15 | p.M903CfsX29, |
| 342 | 14 | |
| 367 | 13 | R367H, R367C, R367L, |
| 346 | 8 | E346K, E346G, E346X, E346D, E346D |
| 344 | 10 | A344S, |
| 381 | 11 | c.1140+1G>A, c.1141-3C>A, |
| 322 | 8 | |
| 905 | 14 | |
| 375 | 13 | |
| 352 | 9 | Y352C, |
| 380 | 7 | |
| 377 | 9 | |
| 908 | 13 | |
| 281 | 15 | V281M, |
| 353 | 5 | T353I, |
| 907 | 15 |