V605F (p.Val605Phe) variant of POR (NADPH--cytochrome P450 reductase)
V605F (p.Val605Phe) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
V605F (p.Val605Phe) variant details
- p.Val605Phe
- rs72552772
- ClinGen CA257657
- ClinVar RCV000018403
- UniProt VAR 021160
- Pathogenic
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.38
- MetaLR 0.83
- MetaSVM 0.78
- SIFT 0.00
- ClinVar: Pathogenic (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduc)
- EBI: Pathogenic (in DISPORD)
- UniProt: Pathogenic (in DISPORD)
- Structural context available
- Cited in: Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PMID 14758361)
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)