S28G (p.Ser28Gly) variant of CYP2E1 (Cytochrome P450 2E1)
S28G (p.Ser28Gly) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- TOPMed rs775675704
- gnomAD rs775675704
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- MetaLR 0.16
- MetaSVM -0.89
- CADD 17.80
- PolyPhen-2 0.20
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.5e-05)
- Structural context available