G12A (p.Gly12Ala) variant of MCM6 (Q14566)
G12A (p.Gly12Ala) in MCM6 (Q14566) 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 and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- ExAC rs200393473
- TOPMed rs200393473
- gnomAD rs200393473
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.12
- CADD 23.60
- PolyPhen-2 0.49
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available