R43R (p.Arg43Arg) variant of CLCN5 (P51795)
R43R (p.Arg43Arg) 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.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- gnomAD X-50042428-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available