R33W (p.Arg33Trp) variant of KCNE1 (P15382)
R33W (p.Arg33Trp) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- gnomAD 21-34449538-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.60
- PolyPhen-2 0.95
- SIFT 0.08
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.43
- Literature evidence available