Y71C (p.Tyr71Cys) variant of CYP2E1 (Cytochrome P450 2E1)
Y71C (p.Tyr71Cys) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y71C (p.Tyr71Cys) variant details
- p.Tyr71Cys
- gnomAD 10-133528515-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.14
- MetaLR 0.44
- MetaSVM -0.43
- CADD 27.90
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available