K42R (p.Lys42Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
K42R (p.Lys42Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- gnomAD 1-16045582-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.20
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available