K38R (p.Lys38Arg) variant of KCNJ11 (Q14654)
K38R (p.Lys38Arg) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- gnomAD 11-17387979-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.90
- CADD 26.90
- PolyPhen-2 0.74
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available