A17E (p.Ala17Glu) variant of POR (NADPH--cytochrome P450 reductase)
A17E (p.Ala17Glu) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- gnomAD 7-75954045-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available