M22T (p.Met22Thr) variant of CYP2E1 (Cytochrome P450 2E1)
M22T (p.Met22Thr) 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 0.23 / 1. The record also includes population frequency data and structural context.
M22T (p.Met22Thr) variant details
- p.Met22Thr
- rs1336298850
- NCI-TCGA Cosmic COSV9942
- cosmic curated COSV99429
- gnomAD rs1336298850
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -1.00
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available