E50V (p.Glu50Val) variant of POR (NADPH--cytochrome P450 reductase)
E50V (p.Glu50Val) 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 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E50V (p.Glu50Val) variant details
- p.Glu50Val
- rs376145249
- ClinGen CA4303462
- ClinVar RCV000313286
- ClinVar RCV005462955
- Uncertain significance
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.11
- MetaLR 0.32
- MetaSVM -0.49
- SIFT 0.01
- ClinVar: Uncertain significance (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduc)
- 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)