A561V (p.Ala561Val) variant of KCNH2 (hERG)
A561V (p.Ala561Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNH2-related disorder; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A561V (p.Ala561Val) variant details
- p.Ala561Val
- rs121912504
- ClinGen CA005035
- NCI-TCGA Cosmic COSV5121
- cosmic curated COSV51212
- Uncertain significance
- KCNH2-related disorder; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Sudden cardiac arrest)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. (PMID 10753933)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)