S4* (p.Ser4Ter) variant of POR (NADPH--cytochrome P450 reductase)
S4* (p.Ser4Ter) in POR (NADPH--cytochrome P450 reductase) 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.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- gnomAD 7-75968098-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available