G56C (p.Gly56Cys) variant of CYP3A5 (Cytochrome P450 3A5)
G56C (p.Gly56Cys) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G56C (p.Gly56Cys) variant details
- p.Gly56Cys
- gnomAD rs1463517926
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.52
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available