I42V (p.Ile42Val) variant of KCNH2 (hERG)
I42V (p.Ile42Val) in KCNH2 (hERG) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1801940339
- Missense
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.00
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0