G12D (p.Gly12Asp) variant of MCM6 (Q14566)
G12D (p.Gly12Asp) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- ExAC rs200393473
- TOPMed rs200393473
- gnomAD rs200393473
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.17
- CADD 24.20
- PolyPhen-2 0.82
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available