V74I (p.Val74Ile) variant of MCM3 (P25205)
V74I (p.Val74Ile) 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 0.44 / 1. The record also includes population frequency data.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- rs927288183
- ClinGen CA138960767
- ClinVar RCV004206740
- TOPMed rs927288183
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)