R61Q (p.Arg61Gln) variant of MCM5 (P33992)
R61Q (p.Arg61Gln) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- gnomAD 22-35403221-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.65
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available