R13R (p.Arg13Arg) variant of RAD50 (DNA repair protein RAD50)
R13R (p.Arg13Arg) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R13R (p.Arg13Arg) variant details
- p.Arg13Arg
- rs779005784
- gnomAD 5-132557363-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 14.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available