E78D (p.Glu78Asp) variant of KCNE2 (Q9Y6J6)
E78D (p.Glu78Asp) in KCNE2 (Q9Y6J6) 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, published literature, and structural context.
E78D (p.Glu78Asp) variant details
- p.Glu78Asp
- gnomAD 21-34370712-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.85
- MetaLR 0.86
- MetaSVM 0.58
- CADD 20.80
- Population evidence available
- Structural context available
- Literature evidence available