V41L (p.Val41Leu) variant of KCNH2 (hERG)
V41L (p.Val41Leu) 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 0.83 / 1. The record also includes experimental measurements and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- rs199472835
- ClinGen CA16042697
- ClinVar RCV000412825
- Ensembl rs199472835
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.91
- MetaSVM 0.88
- CADD 27.50
- PolyPhen-2 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0