D82H (p.Asp82His) variant of MCM3 (P25205)
D82H (p.Asp82His) in MCM3 (P25205) 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 0.78 / 1. The record also includes population frequency data.
D82H (p.Asp82His) variant details
- p.Asp82His
- ExAC rs754087825
- TOPMed rs754087825
- gnomAD rs754087825
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.80
- PolyPhen-2 0.61
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)