Q53* (p.Gln53Ter) variant of CYP4F2 (Cytochrome P450 4F2)
Q53* (p.Gln53Ter) in CYP4F2 (Cytochrome P450 4F2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q53* (p.Gln53Ter) variant details
- p.Gln53Ter
- ExAC rs748890100
- TOPMed rs748890100
- gnomAD rs748890100
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available