T58N (p.Thr58Asn) variant of CYP2E1 (Cytochrome P450 2E1)
T58N (p.Thr58Asn) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T58N (p.Thr58Asn) variant details
- p.Thr58Asn
- gnomAD 10-133527568-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.94
- CADD 2.75
- PolyPhen-2 0.29
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available