R32L (p.Arg32Leu) variant of KCNE1 (P15382)
R32L (p.Arg32Leu) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- gnomAD 21-34449540-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available