K46K (p.Lys46Lys) variant of POR (NADPH--cytochrome P450 reductase)
K46K (p.Lys46Lys) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K46K (p.Lys46Lys) variant details
- p.Lys46Lys
- rs1554555637
- gnomAD 7-75968277-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available