E78Q (p.Glu78Gln) variant of KCNE2 (Q9Y6J6)
E78Q (p.Glu78Gln) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E78Q (p.Glu78Gln) variant details
- p.Glu78Gln
- gnomAD 21-34370710-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.88
- MetaSVM 0.95
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available