S29G (p.Ser29Gly) variant of CYP2E1 (Cytochrome P450 2E1)
S29G (p.Ser29Gly) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S29G (p.Ser29Gly) variant details
- p.Ser29Gly
- gnomAD 10-133527480-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- MetaLR 0.20
- MetaSVM -0.90
- CADD 16.30
- PolyPhen-2 0.27
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available