R5R (p.Arg5Arg) variant of CLCN1 (Chloride channel protein 1)
R5R (p.Arg5Arg) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 7-143316225-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 3.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available