K46* (p.Lys46Ter) variant of POR (NADPH--cytochrome P450 reductase)
K46* (p.Lys46Ter) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K46* (p.Lys46Ter) variant details
- p.Lys46Ter
- rs1788275191
- gnomAD 7-75968275-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 5.84
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available