A97T (p.Ala97Thr) variant of NCF2 (Neutrophil cytosol factor 2)
A97T (p.Ala97Thr) in NCF2 (Neutrophil cytosol factor 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 0.73 / 1. The record also includes published literature and structural context.
A97T (p.Ala97Thr) variant details
- p.Ala97Thr
- rs1558101108
- ClinGen CA343679484
- ClinVar RCV002697478
- TOPMed rs1558101108
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.99
- MetaLR 0.61
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.82
- 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)