V9A (p.Val9Ala) variant of KCNE1 (P15382)
V9A (p.Val9Ala) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- cosmic curated COSV10816
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 1.41
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.52