S29R (p.Ser29Arg) variant of CYP2E1 (Cytochrome P450 2E1)
S29R (p.Ser29Arg) 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 and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- gnomAD rs1259959217
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -1.00
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available