G40D (p.Gly40Asp) variant of KCNE1 (P15382)
G40D (p.Gly40Asp) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- gnomAD 21-34449516-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 9.67
- PolyPhen-2 0.01
- SIFT 0.79
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.36
- Literature evidence available