SCN5A Variant I1948V
Summary of observed carriers, functional annotations, and structural context for SCN5A I1948V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
9%
0/11 effective observations
Estimated BrS1 penetrance
5%
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 (%) |
|---|---|---|---|---|---|
| -0.38 | 0.006 | 0.94 | 0.41 | 0 | 13 |
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 |
|---|---|---|
| 1933 | 15 | G1933D, G1933A, G1933V, |
| 1934 | 14 | |
| 1935 | 14 | G1935S |
| 1936 | 13 | |
| 1937 | 13 | S1937A, |
| 1938 | 12 | E1938X, E1938K, |
| 1939 | 11 | p.E1939_E1943del, |
| 1940 | 11 | |
| 1941 | 10 | |
| 1942 | 9 | P1942S, P1942H, |
| 1943 | 8 | |
| 1944 | 8 | R1944Q, R1944X, |
| 1945 | 7 | |
| 1946 | 5 | |
| 1947 | 4 | |
| 1948 | 0 | I1948V, |
| 1949 | 4 | A1949S, A1949T, |
| 1950 | 5 | Y1950C, |
| 1951 | 7 | V1951M, V1951L, |
| 1952 | 8 | |
| 1953 | 8 | p.S1953RfsX84, |
| 1954 | 9 | E1954K, |
| 1955 | 10 | N1955Y, |
| 1956 | 11 | |
| 1957 | 11 | S1957P, |
| 1958 | 12 | R1958Q, R1958P, R1958X, |
| 1959 | 13 | |
| 1960 | 13 | |
| 1961 | 14 | |
| 1962 | 14 | P1962L, P1962S, |
| 1963 | 15 | P1963L, |