F53C (p.Phe53Cys) variant of MCM5 (P33992)
F53C (p.Phe53Cys) in MCM5 (P33992) 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, published literature, and structural context.
F53C (p.Phe53Cys) variant details
- p.Phe53Cys
- gnomAD 22-35400596-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.26
- CADD 32.00
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available