T58S (p.Thr58Ser) variant of CYP2E1 (Cytochrome P450 2E1)
T58S (p.Thr58Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T58S (p.Thr58Ser) variant details
- p.Thr58Ser
- ExAC rs780517566
- gnomAD rs780517566
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.02
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available