A22V (p.Ala22Val) variant of KCNJ11 (Q14654)
A22V (p.Ala22Val) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 11-17388027-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.16
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available