G40C (p.Gly40Cys) variant of KCNE1 (P15382)
G40C (p.Gly40Cys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G40C (p.Gly40Cys) variant details
- p.Gly40Cys
- gnomAD 21-34449517-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 15.20
- PolyPhen-2 0.83
- SIFT 0.04
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.36
- Literature evidence available