A2T (p.Ala2Thr) variant of MCM2 (P49736)
A2T (p.Ala2Thr) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1180671901
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -0.93
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available