SCN5A Variant E295K
Summary of observed carriers, functional annotations, and structural context for SCN5A E295K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/11 effective observations
Estimated BrS1 penetrance
10%
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 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.82 | 0.891 | -0.56 | 0.532 | 4 | 3 |
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 | 14 | 0 | 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 |
|---|---|---|
| 280 | 15 | C280Y, |
| 281 | 14 | V281M, |
| 282 | 14 | R282C, R282H, |
| 283 | 13 | |
| 284 | 13 | |
| 285 | 12 | T285K, |
| 286 | 11 | A286V, A286S, |
| 287 | 11 | |
| 288 | 10 | N288S, |
| 289 | 9 | G289S, |
| 290 | 8 | p.T290_G292del, |
| 291 | 8 | N291S, p.N291TfsX52, N291H, N291K, p.N291_S293dup, N291K |
| 292 | 7 | G292S, |
| 293 | 5 | |
| 294 | 4 | V294M, |
| 295 | 0 | E295K, |
| 296 | 4 | |
| 297 | 5 | |
| 298 | 7 | G298S, G298D, |
| 299 | 8 | L299M, L299F, L299F, |
| 300 | 8 | V300I, |
| 301 | 9 | |
| 302 | 10 | |
| 303 | 11 | |
| 304 | 11 | |
| 305 | 12 | D305N, |
| 306 | 13 | L306F, L306V, |
| 307 | 13 | |
| 308 | 14 | |
| 309 | 14 | S309N, S309C, |
| 310 | 15 | D310N, |