P28S (p.Pro28Ser) variant of MCM2 (P49736)
P28S (p.Pro28Ser) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- TOPMed rs1249227952
- gnomAD rs1249227952
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.26
- MetaLR 0.21
- MetaSVM -0.70
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available