P36S (p.Pro36Ser) variant of CYP2E1 (Cytochrome P450 2E1)
P36S (p.Pro36Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- ExAC rs747825060
- gnomAD rs747825060
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.37
- MetaLR 0.67
- MetaSVM 0.61
- CADD 24.70
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available