A558V (p.Ala558Val) variant of KCNH2 (hERG)
A558V (p.Ala558Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A558V (p.Ala558Val) variant details
- p.Ala558Val
- cosmic curated COSV51232
- gnomAD rs199472919
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.86
- CADD 23.60
- PolyPhen-2 0.34
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0