A33V (p.Ala33Val) variant of KCNJ11 (Q14654)
A33V (p.Ala33Val) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD 11-17387994-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.55
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available