A36V (p.Ala36Val) variant of KCNE2 (Q9Y6J6)
A36V (p.Ala36Val) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- gnomAD 21-34370585-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.61
- MetaSVM -0.20
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available