I8V (p.Ile8Val) variant of KCNJ11 (Q14654)
I8V (p.Ile8Val) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- gnomAD 11-17388070-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.37
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available