G30C (p.Gly30Cys) variant of CYP1A2 (Cytochrome P450 1A2)
G30C (p.Gly30Cys) in CYP1A2 (Cytochrome P450 1A2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- rs765154807
- NCI-TCGA Cosmic COSV5966
- ExAC rs765154807
- TOPMed rs765154807
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.19
- CADD 12.50
- PolyPhen-2 0.77
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available