I42V (p.Ile42Val) variant of KCNH2 (hERG)
I42V (p.Ile42Val) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1801940339
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.88
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0