R32P (p.Arg32Pro) variant of KCNE1 (P15382)
R32P (p.Arg32Pro) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R32P (p.Arg32Pro) variant details
- p.Arg32Pro
- gnomAD 21-34449540-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.60
- PolyPhen-2 0.79
- SIFT 0.41
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available