A17A (p.Ala17Ala) variant of POR (NADPH--cytochrome P450 reductase)
A17A (p.Ala17Ala) in POR (NADPH--cytochrome P450 reductase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs782378313
- gnomAD 7-75954046-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.084
- CADD 0.47
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available
- Literature evidence available