N52S (p.Asn52Ser) variant of CYP2E1 (Cytochrome P450 2E1)
N52S (p.Asn52Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- rs143746211
- ClinGen CA5767452
- cosmic curated COSV53312
- ClinVar RCV004367936
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.83
- CADD 19.20
- PolyPhen-2 0.24
- SIFT 0.76
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available