KCNQ1 Variant A590T
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A590T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
33%
6/20 effective observations
Total carriers
10
2 LQT1 · unaffected
Functional studies
1
Publications with functional data
Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -1.81 | 0.89 | -1 | 0.817 | 46 |
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 | 2 | None | 2 | None |
| 28491806 | 2017 | 4 | 4 | None | None |
| 22949429 | 2012 | 1 | None | 1 | None |
| 19841300 | 2009 | 1 | None | 1 | None |
| 17192539 | 2006 | 1 | None | 1 | None |
| 14998624 | 2004 | 1 | 1 | None | None |
| Literature, cohort, and gnomAD | – | 10 | 2 | – | |
| Variant features alone | – | 15 | 6 | 4 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.