R78W (p.Arg78Trp) variant of MCM3 (P25205)
R78W (p.Arg78Trp) 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 0.28 / 1. The record also includes population frequency data.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- 1000Genomes rs2307318
- ESP rs2307318
- ExAC rs2307318
- TOPMed rs2307318
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 26.70
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)