S28N (p.Ser28Asn) variant of CYP2E1 (Cytochrome P450 2E1)
S28N (p.Ser28Asn) 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.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- ExAC rs773963522
- gnomAD rs773963522
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -1.04
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available