R61A (p.Arg61Ala) variant of MCM5 (P33992)
R61A (p.Arg61Ala) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R61A (p.Arg61Ala) variant details
- p.Arg61Ala
- rs1569063218
- gnomAD 22-35403216-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 33.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available