I8F (p.Ile8Phe) variant of KCNJ11 (Q14654)
I8F (p.Ile8Phe) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I8F (p.Ile8Phe) variant details
- p.Ile8Phe
- gnomAD 11-17388070-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.59
- CADD 25.70
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available