R29R (p.Arg29Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
R29R (p.Arg29Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R29R (p.Arg29Arg) variant details
- p.Arg29Arg
- gnomAD 1-16044579-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 6.91
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available