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 uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- TOPMed rs1801941190
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.61
- CADD 21.50
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 17.7