I7V (p.Ile7Val) variant of KCNJ11 (Q14654)
I7V (p.Ile7Val) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- gnomAD 11-17388073-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available