E19D (p.Glu19Asp) variant of KCNE1 (P15382)
E19D (p.Glu19Asp) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 21-34449578-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 4.63
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.35
- Literature evidence available