E69G (p.Glu69Gly) variant of MCM6 (Q14566)
E69G (p.Glu69Gly) in MCM6 (Q14566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- ESP rs373573044
- ExAC rs373573044
- TOPMed rs373573044
- gnomAD rs373573044
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.41
- SIFT 0.36
- Most common in the Latino/Admixed American population (allele frequency 0.00038)
- Structural context available