E53K (p.Glu53Lys) variant of POR (NADPH--cytochrome P450 reductase)
E53K (p.Glu53Lys) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- rs782151568
- ClinGen CA4303468
- NCI-TCGA Cosmic COSV6751
- cosmic curated COSV67518
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)