F53L (p.Phe53Leu) variant of MCM5 (P33992)
F53L (p.Phe53Leu) in MCM5 (P33992) 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.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- gnomAD 22-35400597-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.14
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available