A2E (p.Ala2Glu) variant of MCM3 (P25205)
A2E (p.Ala2Glu) in MCM3 (P25205) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs754556530
- TOPMed rs754556530
- gnomAD rs754556530
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)