T8K (p.Thr8Lys) variant of POR (NADPH--cytochrome P450 reductase)
T8K (p.Thr8Lys) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T8K (p.Thr8Lys) variant details
- p.Thr8Lys
- rs782514571
- gnomAD 7-75968092-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 3.46
- Population evidence available
- Structural context available
- Literature evidence available