Q77R (p.Gln77Arg) variant of MCM3 (P25205)
Q77R (p.Gln77Arg) in MCM3 (P25205) is a missense change. Clinical records from ClinVar, EBI, 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 0.63 / 1. The record also includes population frequency data.
Q77R (p.Gln77Arg) variant details
- p.Gln77Arg
- ExAC rs780578811
- TOPMed rs780578811
- gnomAD rs780578811
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)