A34V (p.Ala34Val) variant of KCNH2 (hERG)
A34V (p.Ala34Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- TOPMed rs1801941190
- Likely benign
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 20.60
- ClinVar: Likely benign (Long QT syndrome)
- UniProt: Likely benign
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.5)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 17.7