F38L (p.Phe38Leu) variant of MCM5 (P33992)
F38L (p.Phe38Leu) in MCM5 (P33992) 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 and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- TOPMed rs1447168504
- gnomAD rs1447168504
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.39
- MetaLR 0.21
- MetaSVM -0.67
- CADD 26.70
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available