P36A (p.Pro36Ala) variant of CYP2E1 (Cytochrome P450 2E1)
P36A (p.Pro36Ala) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- ExAC rs747825060
- gnomAD rs747825060
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- MetaLR 0.54
- MetaSVM 0.11
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available