G40V (p.Gly40Val) variant of KCNE1 (P15382)
G40V (p.Gly40Val) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- Ensembl rs2123458875
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 14.70
- PolyPhen-2 0.44
- SIFT 0.16
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.36