KCNH2 Variant A83fsX

Summary of observed carriers, functional annotations, and structural context for KCNH2 A83fsX. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT2 penetrance

%

NA/NA effective observations

Total carriers

2

2 LQT2 · 0 unaffected

Functional studies

0

Publications with functional data

A83fsX has not been reported in gnomAD. This residue resides in a None region for LQT2.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT2 (%)
None None None None

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 LQT2 Other Disease
24606995 2014 1 0 1
11854117 2002 1 0 1
10973849 2000 1 0 1
Literature, cohort, and gnomAD – 2 0 2 –
Variant features alone – 10 NA NA –

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