S9L (p.Ser9Leu) variant of POR (NADPH--cytochrome P450 reductase)
S9L (p.Ser9Leu) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs1788265233
- gnomAD 7-75968099-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available