A15V (p.Ala15Val) variant of CYP2E1 (Cytochrome P450 2E1)
A15V (p.Ala15Val) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- TOPMed rs1467974326
- gnomAD rs1467974326
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.97
- CADD 6.66
- PolyPhen-2 0.01
- SIFT 0.84
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available