KCNQ1 Variant A46T
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A46T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
32%
6/20 effective observations
Total carriers
10
5 LQT1 · unaffected
Functional studies
1
Publications with functional data
Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -0.2 | 0.0 | 1 | 0.522 | 25 |
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 |
|---|---|---|---|---|---|
| 32893267 | 2020 | 1 | None | 1 | None |
| 26423924 | 2016 | 3 | 3 | None | 1 SUDEP |
| 25786344 | 2015 | 1 | 1 | None | None |
| 24144883 | 2014 | 1 | None | None | Early onset AF |
| 23631430 | 2013 | 2 | None | None | None |
| 21956039 | 2011 | 2 | None | 2 | None |
| 19808498 | 2009 | 1 | None | 1 | None |
| 19716085 | 2009 | 2 | None | 2 | None |
| Literature, cohort, and gnomAD | – | 10 | 5 | – | |
| Variant features alone | – | 15 | 9 | 1 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.