V21A (p.Val21Ala) variant of KCNE1 (P15382)
V21A (p.Val21Ala) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- gnomAD 21-34449573-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 3.58
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.6
- Literature evidence available