F120L (p.Phe120Leu) variant of MCM3 (P25205)
F120L (p.Phe120Leu) 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 0.35 / 1. The record also includes population frequency data.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- rs1000512618
- ClinGen CA138957210
- ClinVar RCV004419195
- TOPMed rs1000512618
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)