E78G (p.Glu78Gly) variant of KCNE2 (Q9Y6J6)
E78G (p.Glu78Gly) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E78G (p.Glu78Gly) variant details
- p.Glu78Gly
- gnomAD 21-34370711-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.89
- MetaSVM 1.01
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available