V41A (p.Val41Ala) variant of KCNH2 (hERG)
V41A (p.Val41Ala) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- rs731506
- ClinGen CA004307
- ClinVar RCV000057876
- Ensembl rs731506
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.12
- CADD 29.70
- PolyPhen-2 0.03
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0