W28S (p.Trp28Ser) variant of CYBB (NADPH oxidase 2)
W28S (p.Trp28Ser) in CYBB (NADPH oxidase 2) 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 0.47 / 1. The record also includes published literature and structural context.
W28S (p.Trp28Ser) variant details
- p.Trp28Ser
- rs782408392
- ClinGen CA412972461
- ClinVar RCV004367688
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.39
- MetaLR 0.69
- MetaSVM -0.19
- PolyPhen-2 0.01
- SIFT 0.64
- EVE 0.09
- 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)