A31D (p.Ala31Asp) variant of KCNE1 (P15382)
A31D (p.Ala31Asp) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- gnomAD 21-34449543-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.90
- PolyPhen-2 0.78
- SIFT 0.05
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37
- Literature evidence available