Q58* (p.Gln58Ter) variant of POR (NADPH--cytochrome P450 reductase)
Q58* (p.Gln58Ter) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs934284308
- gnomAD 7-75972425-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 10.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available