SCN5A Variant E337A
Summary of observed carriers, functional annotations, and structural context for SCN5A E337A. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
15%
0/10 effective observations
Estimated BrS1 penetrance
33%
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 | 0.833 | 46 | 16 |
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 |
|---|---|---|
| 328 | 15 | |
| 333 | 14 | c.998+5G>A, c.998+1G>A, |
| 341 | 13 | C341Y, |
| 326 | 13 | |
| 335 | 8 | C335R, C335S, C335S, |
| 327 | 14 | |
| 339 | 7 | |
| 284 | 11 | |
| 336 | 6 | P336L, |
| 282 | 10 | R282C, R282H, |
| 340 | 11 | R340Q, R340W, |
| 338 | 5 | |
| 285 | 14 | T285K, |
| 334 | 11 | c.999-424_1338+81del, |
| 280 | 12 | C280Y, |
| 281 | 13 | V281M, |
| 283 | 11 | |
| 337 | 0 | |
| 286 | 14 | A286V, A286S, |