N52T (p.Asn52Thr) variant of CYP2E1 (Cytochrome P450 2E1)
N52T (p.Asn52Thr) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N52T (p.Asn52Thr) variant details
- p.Asn52Thr
- 1000Genomes rs143746211
- ExAC rs143746211
- TOPMed rs143746211
- gnomAD rs143746211
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.63
- CADD 23.00
- PolyPhen-2 0.70
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available