E71A (p.Glu71Ala) variant of MCM2 (P49736)
E71A (p.Glu71Ala) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E71A (p.Glu71Ala) variant details
- p.Glu71Ala
- TOPMed rs2074291027
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.27
- MetaLR 0.10
- MetaSVM -0.97
- CADD 25.70
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available