S32F (p.Ser32Phe) variant of MCM2 (P49736)
S32F (p.Ser32Phe) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- gnomAD 3-127599406-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -0.94
- CADD 23.80
- PolyPhen-2 0.36
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available