S53P (p.Ser53Pro) variant of MCM2 (P49736)
S53P (p.Ser53Pro) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- gnomAD 3-127599468-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.79
- CADD 25.90
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available