E96K (p.Glu96Lys) variant of CYP27B1 (O15528)
E96K (p.Glu96Lys) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- rs1955358409
- ClinGen CA385508146
- ClinVar RCV004367838
- TOPMed rs1955358409
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- ESM-1b 0.77
- AlphaMissense 0.18
- MetaLR 0.13
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)