A34D (p.Ala34Asp) variant of KCNH2 (hERG)
A34D (p.Ala34Asp) in KCNH2 (hERG) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 20.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 17.7