F4L (p.Phe4Leu) variant of MCM5 (P33992)
F4L (p.Phe4Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- gnomAD 22-35400450-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.22
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available