R56R (p.Arg56Arg) variant of MCM5 (P33992)
R56R (p.Arg56Arg) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- gnomAD 22-35403207-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available