SCN5A Variant W193R
Summary of observed carriers, functional annotations, and structural context for SCN5A W193R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
10%
0/11 effective observations
Estimated BrS1 penetrance
13%
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 (%) |
|---|---|---|---|---|---|
| -13.55 | 0.998 | -6.96 | 0.909 | 3 | 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 | 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 |
|---|---|---|
| 848 | 13 | I848F, |
| 223 | 14 | V223L, |
| 247 | 15 | V247L, V247L, |
| 240 | 9 | V240M, |
| 231 | 9 | c.692_693delCA, |
| 198 | 11 | |
| 193 | 0 | W193R, W193R, W193X, |
| 195 | 8 | |
| 237 | 11 | |
| 228 | 7 | K228R, |
| 138 | 13 | M138I, M138I, M138I, |
| 227 | 7 | L227P, |
| 171 | 14 | |
| 137 | 15 | I137V, |
| 197 | 8 | |
| 229 | 11 | |
| 196 | 6 | |
| 190 | 12 | R190G, R190W, R190L, R190Q, |
| 189 | 11 | |
| 852 | 14 | |
| 245 | 14 | Q245K, |
| 224 | 10 | L224F, |
| 845 | 13 | c.2533delG, |
| 232 | 13 | V232F, V232I, |
| 244 | 10 | |
| 191 | 6 | |
| 134 | 15 | N134S, |
| 849 | 14 | |
| 226 | 11 | A226V, A226G, |
| 248 | 14 | |
| 241 | 11 | |
| 235 | 15 | G235R, G235R, c.704-1G>C, c.703+1G>A, |
| 239 | 14 | I239V , I239V, |
| 230 | 9 | I230V, I230M, I230T, |
| 199 | 11 | S199T, |
| 242 | 14 | A242D, |
| 236 | 11 | |
| 192 | 5 | |
| 175 | 13 | K175N, K175N, |
| 233 | 13 | |
| 194 | 6 | |
| 141 | 14 | I141N, I141V, |
| 188 | 11 | |
| 201 | 14 | |
| 225 | 10 | R225Q, R225W, |
| 243 | 12 | |
| 200 | 12 | |
| 187 | 13 | T187S, T187I, T187S, |