SCN5A Variant S330F
Summary of observed carriers, functional annotations, and structural context for SCN5A S330F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
21%
1/11 effective observations
Estimated BrS1 penetrance
13%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 1 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -5.29 | 0.966 | -1.17 | 0.673 | 14 | 26 |
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 | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 13 | 1 | 1 | – | – |
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 |
|---|---|---|
| 328 | 8 | |
| 333 | 8 | c.998+1G>A, c.998+5G>A, |
| 1702 | 13 | |
| 326 | 12 | |
| 387 | 7 | |
| 385 | 9 | A385T, |
| 391 | 15 | |
| 330 | 0 | S330F, |
| 278 | 14 | H278D, H278R, |
| 388 | 8 | I388S, |
| 1698 | 11 | A1698T |
| 334 | 9 | c.999-424_1338+81del, |
| 332 | 6 | A332T, |
| 327 | 10 | |
| 384 | 11 | S384T, |
| 329 | 4 | |
| 1692 | 13 | |
| 386 | 8 | G386R, G386R, G386E, |
| 1693 | 14 | |
| 1699 | 11 | |
| 331 | 4 | |
| 341 | 14 | C341Y, |
| 335 | 12 | C335S, C335R, C335S, |
| 325 | 15 | L325R, |
| 1228 | 13 | Y1228H, Y1228C, Y1228F, |
| 1690 | 14 | c.5068_5070delGA, D1690N, |
| 1697 | 13 | |
| 389 | 11 | Y389H, Y389X, |
| 390 | 13 | |
| 275 | 15 | N275K, N275K, |
| 383 | 12 | |
| 1614 | 15 | |
| 382 | 10 | |
| 1696 | 13 | |
| 1689 | 15 | D1689N, |
| 381 | 13 | c.1140+1G>A, c.1141-3C>A, |
| 1691 | 10 |