KCNQ1 Variant R293H
Summary of observed carriers, functional annotations, and structural context for KCNQ1 R293H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
38%
5/15 effective observations
Total carriers
5
0 LQT1 · 5 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -2.31 | 0.834 | 3 | 0.524 | 56 |
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. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT1 | Other Disease |
|---|---|---|---|---|---|
| 22949429 | 2012 | 1 | 1 | None | None |
| 19841300 | 2009 | 1 | 1 | None | None |
| Literature, cohort, and gnomAD | – | 5 | 5 | 0 | – |
| Variant features alone | – | 15 | 5 | 5 | – |
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.