R43R (p.Arg43Arg) variant of ERCC5 (P28715)
R43R (p.Arg43Arg) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- gnomAD 13-102852158-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0854
- CADD 0.67
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available