G27E (p.Gly27Glu) variant of CYP2C9 (Cytochrome P450 2C9)
G27E (p.Gly27Glu) in CYP2C9 (Cytochrome P450 2C9) 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 0.24 / 1. The record also includes population frequency data and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53246
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.09
- CADD 7.57
- PolyPhen-2 0.10
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available