KCNQ1 Variant E596V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E596V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

77%

7/10 effective observations

Total carriers

0

0 LQT1 · unaffected

Functional studies

0

Publications with functional data

E596V has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-5.0 0.771 -3 0.868 84

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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
Literature, cohort, and gnomAD – 0 0 –
Variant features alone – 15 3 7 –

Totals may differ from individual publications due to duplicate patients removed during curation.