SCN5A Variant R478W
Summary of observed carriers, functional annotations, and structural context for SCN5A R478W. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/10 effective observations
Estimated BrS1 penetrance
25%
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 | 0.484 | 34 | 0 |
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 |
|---|---|---|
| 463 | 15 | M463R, M463T, |
| 464 | 14 | |
| 465 | 14 | p.P465LfsX5, |
| 466 | 13 | L466F, L466F, |
| 467 | 13 | |
| 468 | 12 | P468L, |
| 469 | 11 | V469I, |
| 470 | 11 | N470K, N470K, |
| 471 | 10 | |
| 472 | 9 | |
| 473 | 8 | E473X |
| 474 | 8 | R474K, R474G, |
| 475 | 7 | R475K, R475S, R475S, |
| 476 | 5 | |
| 477 | 4 | c.1428_1431delCAAG, |
| 478 | 0 | |
| 479 | 4 | |
| 480 | 5 | K480N, K480N, |
| 481 | 7 | R481Q, R481W, |
| 482 | 8 | M482I, M482I, M482I, |
| 483 | 8 | |
| 484 | 9 | |
| 485 | 10 | |
| 486 | 11 | T486A, T486S, T486S, |
| 487 | 11 | |
| 488 | 12 | |
| 489 | 13 | |
| 490 | 13 | G490A, G490E, |
| 491 | 14 | E491G, |
| 492 | 14 | |
| 493 | 15 | R493K, |