P40S (p.Pro40Ser) variant of CYP2E1 (Cytochrome P450 2E1)
P40S (p.Pro40Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- gnomAD 10-133527513-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.46
- MetaLR 0.69
- MetaSVM 0.64
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available