T69M (p.Thr69Met) variant of CYP2E1 (Cytochrome P450 2E1)
T69M (p.Thr69Met) in CYP2E1 (Cytochrome P450 2E1) 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 0.65 / 1. The record also includes population frequency data and structural context.
T69M (p.Thr69Met) variant details
- p.Thr69Met
- rs1324031177
- NCI-TCGA Cosmic COSV5331
- cosmic curated COSV53313
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.61
- MetaLR 0.56
- MetaSVM 0.26
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available