A34T (p.Ala34Thr) variant of KCNH2 (hERG)
A34T (p.Ala34Thr) 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 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD rs1481808066
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 20.70
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 17.7