A40V (p.Ala40Val) variant of KCNH2 (hERG)
A40V (p.Ala40Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs794728407
- ClinGen CA004270
- ClinVar RCV000181924
- Ensembl rs794728407
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.96
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 0.41
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 73.2