I57F (p.Ile57Phe) variant of POR (NADPH--cytochrome P450 reductase)
I57F (p.Ile57Phe) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I57F (p.Ile57Phe) variant details
- p.Ile57Phe
- gnomAD 7-75954164-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available