G12S (p.Gly12Ser) variant of MCM6 (Q14566)
G12S (p.Gly12Ser) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- TOPMed rs891300519
- gnomAD rs891300519
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available