G47C (p.Gly47Cys) variant of CYP1A2 (Cytochrome P450 1A2)
G47C (p.Gly47Cys) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- gnomAD rs939000746
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.32
- CADD 21.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available