R33M (p.Arg33Met) variant of KCNE1 (P15382)
R33M (p.Arg33Met) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R33M (p.Arg33Met) variant details
- p.Arg33Met
- Ensembl rs1981037805
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.90
- PolyPhen-2 0.79
- SIFT 0.09
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.43