G30D (p.Gly30Asp) variant of CYP1A2 (Cytochrome P450 1A2)
G30D (p.Gly30Asp) 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 0.16 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- NCI-TCGA Cosmic COSV5966
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.13
- CADD 2.47
- PolyPhen-2 0.27
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available