K95T (p.Lys95Thr) variant of NCF2 (Neutrophil cytosol factor 2)
K95T (p.Lys95Thr) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K95T (p.Lys95Thr) variant details
- p.Lys95Thr
- rs765461476
- ClinGen CA1285010
- ClinVar RCV004473529
- ExAC rs765461476
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.47
- MetaLR 0.34
- MetaSVM -0.69
- CADD 23.70
- PolyPhen-2 0.10
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)