Y53C (p.Tyr53Cys) variant of CYP3A5 (Cytochrome P450 3A5)
Y53C (p.Tyr53Cys) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- ExAC rs72552791
- TOPMed rs72552791
- gnomAD rs72552791
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available