SCN5A Variant Q967R
Summary of observed carriers, functional annotations, and structural context for SCN5A Q967R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
8%
0/11 effective observations
Estimated BrS1 penetrance
10%
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 (%) |
|---|---|---|---|---|---|
| -1.96 | 0.906 | 1.03 | 0.611 | 8 | 8 |
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 |
|---|---|---|
| 952 | 15 | E952K, |
| 953 | 14 | D953E, D953Y, D953E, |
| 954 | 14 | R954G, |
| 955 | 13 | p.E955DfsX74, |
| 956 | 13 | M956I, M956I, M956I, M956T, |
| 957 | 12 | |
| 958 | 11 | |
| 959 | 11 | L959P, |
| 960 | 10 | Q960K, |
| 961 | 9 | |
| 962 | 8 | |
| 963 | 8 | |
| 964 | 7 | A964G, |
| 965 | 5 | R965C, R965L, R965H, |
| 966 | 4 | |
| 967 | 0 | Q967R, |
| 968 | 4 | |
| 969 | 5 | G969C, G969S, |
| 970 | 7 | |
| 971 | 8 | R971C, R971H, |
| 972 | 8 | c.2914_2923delTTTGTCAAGC, |
| 973 | 9 | |
| 974 | 10 | K974D, |
| 975 | 11 | R975Q, R975W, |
| 976 | 11 | |
| 977 | 12 | |
| 978 | 13 | |
| 979 | 13 | D979H, |
| 980 | 14 | |
| 981 | 14 | C981F, |
| 982 | 15 | C982R, |