K46N (p.Lys46Asn) variant of POR (NADPH--cytochrome P450 reductase)
K46N (p.Lys46Asn) 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 not specified; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduct. 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.
K46N (p.Lys46Asn) variant details
- p.Lys46Asn
- rs56355228
- ClinGen CA4303460
- ClinVar RCV002647218
- ClinVar RCV003988063
- Uncertain significance
- not specified; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduct
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.48
- MetaLR 0.15
- MetaSVM -0.86
- SIFT 0.15
- MutPred 0.48
- ClinVar: Uncertain significance (not specified; Congenital adrenal hyperplasia due to cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)