SCN5A Variant F1587V
Summary of observed carriers, functional annotations, and structural context for SCN5A F1587V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
11%
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 (%) |
|---|---|---|---|---|---|
| -6.27 | 1 | -2.85 | 0.954 | 5 | 2 |
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 |
|---|---|---|
| 1525 | 14 | V1525A, V1525M, |
| 1586 | 4 | |
| 1587 | 0 | F1587V, |
| 1575 | 11 | C1575S, |
| 1510 | 13 | |
| 1600 | 13 | |
| 1599 | 13 | |
| 1583 | 9 | R1583C, R1583H, |
| 1580 | 11 | |
| 1585 | 8 | Y1585C, |
| 1576 | 13 | |
| 1596 | 7 | F1596I, F1596C, |
| 1589 | 8 | |
| 1584 | 7 | |
| 1632 | 15 | R1632C, R1632H, R1632L, |
| 1597 | 11 | V1597M, |
| 1594 | 10 | F1594S, |
| 1588 | 6 | T1588I, |
| 1581 | 11 | A1581S, |
| 1591 | 12 | W1591X, |
| 1593 | 6 | I1593M, |
| 1595 | 10 | |
| 1629 | 15 | R1629Q, R1629G, R1629X |
| 1574 | 13 | E1574K, c.4719C>T, |
| 1592 | 7 | |
| 1578 | 10 | c.4732_4733dupAA, |
| 1590 | 9 | |
| 1582 | 8 | L1582P, |
| 1579 | 8 | L1579fsX53, |
| 1598 | 14 | V1598A, |
| 1577 | 14 |