F30L (p.Phe30Leu) variant of MCM6 (Q14566)
F30L (p.Phe30Leu) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- ExAC rs770552977
- TOPMed rs770552977
- gnomAD rs770552977
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available