V67C (p.Val67Cys) variant of CYP2E1 (Cytochrome P450 2E1)
V67C (p.Val67Cys) in CYP2E1 (Cytochrome P450 2E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V67C (p.Val67Cys) variant details
- p.Val67Cys
- gnomAD 10-133528500-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available