K40E (p.Lys40Glu) variant of KCNE2 (Q9Y6J6)
K40E (p.Lys40Glu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- gnomAD 21-34370596-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.42
- CADD 18.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available