R52R (p.Arg52Arg) variant of CDC73 (Parafibromin)
R52R (p.Arg52Arg) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R52R (p.Arg52Arg) variant details
- p.Arg52Arg
- rs886045712
- gnomAD 1-193125136-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 13.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available