Q77L (p.Gln77Leu) variant of MCM3 (P25205)
Q77L (p.Gln77Leu) 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 0.60 / 1. The record also includes population frequency data.
Q77L (p.Gln77Leu) variant details
- p.Gln77Leu
- ExAC rs780578811
- TOPMed rs780578811
- gnomAD rs780578811
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 23.50
- PolyPhen-2 0.28
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)