G24V (p.Gly24Val) variant of KCNE1 (P15382)
G24V (p.Gly24Val) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- gnomAD 21-34449564-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 14.80
- PolyPhen-2 0.68
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 5.6e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37
- Literature evidence available