H62R (p.His62Arg) variant of MCM5 (P33992)
H62R (p.His62Arg) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H62R (p.His62Arg) variant details
- p.His62Arg
- TOPMed rs201362121
- gnomAD rs201362121
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.36
- MetaLR 0.20
- MetaSVM -0.88
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available