S4L (p.Ser4Leu) variant of POR (NADPH--cytochrome P450 reductase)
S4L (p.Ser4Leu) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- rs974390968
- gnomAD 7-75968098-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 15.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available