R11R (p.Arg11Arg) variant of CLCN5 (P51795)
R11R (p.Arg11Arg) in CLCN5 (P51795) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R11R (p.Arg11Arg) variant details
- p.Arg11Arg
- gnomAD X-50042332-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 13.60
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available