SCN5A Variant L1927P
Summary of observed carriers, functional annotations, and structural context for SCN5A L1927P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
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 (%) |
|---|---|---|---|---|---|
| -3.04 | 0.998 | 0.03 | 0.796 | 3 | 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 | – | 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 |
|---|---|---|
| 1912 | 15 | |
| 1913 | 14 | R1913C, R1913S, R1913H, |
| 1914 | 14 | R1914G, |
| 1915 | 13 | H1915N, H1915Y, H1915Q, H1915P, |
| 1916 | 13 | |
| 1917 | 12 | |
| 1918 | 11 | |
| 1919 | 11 | R1919C, R1919H, |
| 1920 | 10 | S1920C, |
| 1921 | 9 | |
| 1922 | 8 | K1922N, K1922R, |
| 1923 | 8 | H1923D, H1923Y, |
| 1924 | 7 | A1924T, |
| 1925 | 5 | p.S1925CfsX20, S1925F, |
| 1926 | 4 | |
| 1927 | 0 | L1927P, |
| 1928 | 4 | F1928V, |
| 1929 | 5 | R1929C, R1929H, |
| 1930 | 7 | Q1930H, |
| 1931 | 8 | |
| 1932 | 8 | A1932V, |
| 1933 | 9 | G1933A, G1933D, G1933V, |
| 1934 | 10 | |
| 1935 | 11 | G1935S, |
| 1936 | 11 | |
| 1937 | 12 | S1937A, |
| 1938 | 13 | E1938X, E1938K, |
| 1939 | 13 | p.E1939_E1943del, |
| 1940 | 14 | |
| 1941 | 14 | |
| 1942 | 15 | P1942H, P1942S |