P48S (p.Pro48Ser) variant of MCM2 (P49736)
P48S (p.Pro48Ser) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- gnomAD rs2074290087
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.22
- MetaLR 0.29
- MetaSVM -0.52
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available