T8M (p.Thr8Met) variant of POR (NADPH--cytochrome P450 reductase)
T8M (p.Thr8Met) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs782514571
- gnomAD 7-75968092-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 4.49
- Population evidence available
- Structural context available
- Literature evidence available