E60D (p.Glu60Asp) variant of MCM2 (P49736)
E60D (p.Glu60Asp) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- ExAC rs758633607
- TOPMed rs758633607
- gnomAD rs758633607
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.05
- CADD 17.40
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available