SCN5A Variant S1957P
Summary of observed carriers, functional annotations, and structural context for SCN5A S1957P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
8%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -1.73 | 0.001 | -0.63 | 0.559 | 0 | 1 |
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 | 15 | 0 | 0 | – | – |
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 |
|---|---|---|
| 1942 | 15 | P1942S, P1942H, |
| 1943 | 14 | |
| 1944 | 14 | R1944Q, R1944X, |
| 1945 | 13 | |
| 1946 | 13 | |
| 1947 | 12 | |
| 1948 | 11 | I1948V, |
| 1949 | 11 | A1949S, A1949T, |
| 1950 | 10 | Y1950C, |
| 1951 | 9 | V1951L, V1951M, |
| 1952 | 8 | |
| 1953 | 8 | p.S1953RfsX84, |
| 1954 | 7 | E1954K, |
| 1955 | 5 | N1955Y, |
| 1956 | 4 | |
| 1957 | 0 | S1957P, |
| 1958 | 4 | R1958Q, R1958P, R1958X, |
| 1959 | 5 | |
| 1960 | 7 | |
| 1961 | 8 | |
| 1962 | 8 | P1962S, P1962L |
| 1963 | 9 | P1963L, |
| 1964 | 10 | S1964F, |
| 1965 | 11 | S1965G, S1965N, |
| 1966 | 11 | |
| 1967 | 12 | p.S1967LfsX12, |
| 1968 | 13 | I1968N, I1968T, I1968S, I1968V, I1968M, |
| 1969 | 13 | |
| 1970 | 14 | p.S1970_S1972del, |
| 1971 | 14 | |
| 1972 | 15 |