F54L (p.Phe54Leu) variant of POR (NADPH--cytochrome P450 reductase)
F54L (p.Phe54Leu) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Congenital adrenal hyperplasia due to cyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- rs927062544
- ClinGen CA160922701
- ClinVar RCV001812591
- ClinVar RCV002542353
- Uncertain significance
- Inborn genetic diseases; not provided; Congenital adrenal hyperplasia due to cyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.83
- MetaLR 0.22
- MetaSVM -0.79
- SIFT 0.46
- MutPred 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Congenital adrenal hyperp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)