I41V (p.Ile41Val) variant of CYP2E1 (Cytochrome P450 2E1)
I41V (p.Ile41Val) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- TOPMed rs1851285042
- gnomAD rs1851285042
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.97
- CADD 7.29
- SIFT 0.99
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available