R48H (p.Arg48His) variant of MCM5 (P33992)
R48H (p.Arg48His) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- ExAC rs768649710
- gnomAD rs768649710
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.81
- CADD 27.10
- PolyPhen-2 0.72
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available