SCN5A Variant E473D
Summary of observed carriers, functional annotations, and structural context for SCN5A E473D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/10 effective observations
Estimated BrS1 penetrance
11%
1/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 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 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.212 | 11 | 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 | 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 |
---|---|---|
458 | 15 | p.R458VfsX12, R458C, R458H |
459 | 14 | S459G, |
460 | 14 | |
461 | 13 | L461V, |
462 | 13 | E462A, E462K, |
463 | 12 | M463R, M463T, |
464 | 11 | |
465 | 11 | p.P465LfsX5, |
466 | 10 | L466F, |
467 | 9 | |
468 | 8 | P468L, |
469 | 8 | V469I, |
470 | 7 | N470K, |
471 | 5 | |
472 | 4 | |
473 | 0 | E473X, |
474 | 4 | R474G, R474K, |
475 | 5 | R475K, R475S, |
476 | 7 | |
477 | 8 | c.1428_1431delCAAG, |
478 | 8 | |
479 | 9 | |
480 | 10 | K480N, |
481 | 11 | R481Q, R481W, |
482 | 11 | M482I, |
483 | 12 | |
484 | 13 | |
485 | 13 | |
486 | 14 | T486S, T486A, |
487 | 14 | |
488 | 15 |