E53E (p.Glu53Glu) variant of POR (NADPH--cytochrome P450 reductase)
E53E (p.Glu53Glu) in POR (NADPH--cytochrome P450 reductase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- gnomAD 7-75954148-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available