S53C (p.Ser53Cys) variant of MCM2 (P49736)
S53C (p.Ser53Cys) 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.
S53C (p.Ser53Cys) variant details
- p.Ser53Cys
- TOPMed rs2074290230
- gnomAD rs2074290230
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.58
- CADD 27.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available