A2S (p.Ala2Ser) variant of MCM2 (P49736)
A2S (p.Ala2Ser) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- TOPMed rs1180671901
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -0.92
- CADD 27.60
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available