V74F (p.Val74Phe) variant of MCM3 (P25205)
V74F (p.Val74Phe) in MCM3 (P25205) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
V74F (p.Val74Phe) variant details
- p.Val74Phe
- TOPMed rs927288183
- gnomAD rs927288183
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)