R77S (p.Arg77Ser) variant of KCNH2 (hERG)
R77S (p.Arg77Ser) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R77S (p.Arg77Ser) variant details
- p.Arg77Ser
- ExAC rs769084156
- gnomAD rs769084156
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.45
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.97
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 112