R36S (p.Arg36Ser) variant of KCNE1 (P15382)
R36S (p.Arg36Ser) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36S (p.Arg36Ser) variant details
- p.Arg36Ser
- gnomAD 21-34449529-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
- Literature evidence available