E14* (p.Glu14Ter) variant of POR (NADPH--cytochrome P450 reductase)
E14* (p.Glu14Ter) in POR (NADPH--cytochrome P450 reductase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- rs373053855
- ClinGen CA4303437
- cosmic curated COSV67517
- ClinVar RCV003518265
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.267
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -0.98
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)