R45P (p.Arg45Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
R45P (p.Arg45Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R45P (p.Arg45Pro) variant details
- p.Arg45Pro
- gnomAD 1-16045591-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.74
- CADD 23.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available