E14D (p.Glu14Asp) variant of POR (NADPH--cytochrome P450 reductase)
E14D (p.Glu14Asp) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- rs1554555576
- gnomAD 7-75968114-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 8.88
- Population evidence available
- Structural context available
- Literature evidence available