I42M (p.Ile42Met) variant of CYP2E1 (Cytochrome P450 2E1)
I42M (p.Ile42Met) 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 0.24 / 1. The record also includes population frequency data and structural context.
I42M (p.Ile42Met) variant details
- p.Ile42Met
- NCI-TCGA Cosmic COSV5331
- cosmic curated COSV53314
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.55
- CADD 6.75
- PolyPhen-2 0.37
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available