E12A (p.Glu12Ala) variant of KCNE2 (Q9Y6J6)
E12A (p.Glu12Ala) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- gnomAD 21-34370513-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.79
- MetaSVM 0.77
- CADD 24.20
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available