K23R (p.Lys23Arg) variant of KCNJ11 (Q14654)
K23R (p.Lys23Arg) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- gnomAD 11-17388024-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available