C45Y (p.Cys45Tyr) variant of CYP4F2 (Cytochrome P450 4F2)
C45Y (p.Cys45Tyr) in CYP4F2 (Cytochrome P450 4F2) 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 0.15 / 1. The record also includes population frequency data and structural context.
C45Y (p.Cys45Tyr) variant details
- p.Cys45Tyr
- ExAC rs765494621
- TOPMed rs765494621
- gnomAD rs765494621
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.22
- CADD 0.17
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available