R8R (p.Arg8Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
R8R (p.Arg8Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs1204707218
- gnomAD 1-16044516-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0854
- CADD 0.67
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available