Q62H (p.Gln62His) variant of CYP2E1 (Cytochrome P450 2E1)
Q62H (p.Gln62His) 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 0.25 / 1. The record also includes population frequency data and structural context.
Q62H (p.Gln62His) variant details
- p.Gln62His
- NCI-TCGA TCGA novel
- gnomAD rs1851298642
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.83
- CADD 23.50
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available