E14Q (p.Glu14Gln) variant of POR (NADPH--cytochrome P450 reductase)
E14Q (p.Glu14Gln) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- rs1788265739
- gnomAD 7-75968109-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 14.80
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available