E12K (p.Glu12Lys) variant of KCNE2 (Q9Y6J6)
E12K (p.Glu12Lys) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD 21-34370512-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.81
- MetaSVM 0.79
- CADD 24.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available