A7G (p.Ala7Gly) variant of MCM6 (Q14566)
A7G (p.Ala7Gly) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- ExAC rs750702190
- TOPMed rs750702190
- gnomAD rs750702190
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.06
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available