R48R (p.Arg48Arg) variant of MCM5 (P33992)
R48R (p.Arg48Arg) in MCM5 (P33992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- rs1417037758
- gnomAD 22-35400582-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 14.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available