R45L (p.Arg45Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
R45L (p.Arg45Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- gnomAD 1-16045591-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.62
- CADD 22.30
- PolyPhen-2 0.69
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available