E18E (p.Glu18Glu) variant of POR (NADPH--cytochrome P450 reductase)
E18E (p.Glu18Glu) in POR (NADPH--cytochrome P450 reductase) is a synonymous 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.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- rs782620680
- gnomAD 7-75954043-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 5.35
- Population evidence available
- Structural context available
- Literature evidence available