Q115H (p.Gln115His) variant of NCF2 (Neutrophil cytosol factor 2)
Q115H (p.Gln115His) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q115H (p.Gln115His) variant details
- p.Gln115His
- rs2527976784
- NCI-TCGA TCGA novel
- ClinGen CA343678908
- ClinVar RCV002792607
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- MetaLR 0.43
- MetaSVM -0.47
- CADD 19.00
- PolyPhen-2 0.23
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)