E52D (p.Glu52Asp) variant of MCM2 (P49736)
E52D (p.Glu52Asp) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- TOPMed rs2074290197
- gnomAD rs2074290197
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -0.97
- CADD 21.20
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available