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 0.59 / 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 0.594
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.74
- MetaSVM 0.25
- CADD 21.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 17.7