S74L (p.Ser74Leu) variant of CYP2E1 (Cytochrome P450 2E1)
S74L (p.Ser74Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S74L (p.Ser74Leu) variant details
- p.Ser74Leu
- ExAC rs764575539
- TOPMed rs764575539
- gnomAD rs764575539
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -1.01
- CADD 11.50
- PolyPhen-2 0.20
- SIFT 0.67
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available