I20V (p.Ile20Val) variant of KCNE2 (Q9Y6J6)
I20V (p.Ile20Val) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- gnomAD 21-34370536-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.36
- MetaSVM -0.73
- CADD 0.02
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available