T58I (p.Thr58Ile) variant of CYP2E1 (Cytochrome P450 2E1)
T58I (p.Thr58Ile) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- Ensembl rs1851285683
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.25
- MetaLR 0.17
- MetaSVM -0.93
- CADD 11.60
- PolyPhen-2 0.51
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available