R47R (p.Arg47Arg) variant of CLCN1 (Chloride channel protein 1)
R47R (p.Arg47Arg) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R47R (p.Arg47Arg) variant details
- p.Arg47Arg
- gnomAD 7-143316353-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 5.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available