R56M (p.Arg56Met) variant of MCM5 (P33992)
R56M (p.Arg56Met) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R56M (p.Arg56Met) variant details
- p.Arg56Met
- gnomAD 22-35400605-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.58
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available