E53del (p.Glu53del) variant of POR (NADPH--cytochrome P450 reductase)
E53del (p.Glu53del) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E53del (p.Glu53del) variant details
- rs72553987
- gnomAD 7-75954143-AAAG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 21.30
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Cited in: Pharmacogenomics of human P450 oxidoreductase. (PMID 24847272)