D34G (p.Asp34Gly) variant of NCF2 (Neutrophil cytosol factor 2)
D34G (p.Asp34Gly) 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 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- rs745752489
- ClinGen CA1285059
- ClinVar RCV002995921
- ExAC rs745752489
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.44
- MetaLR 0.43
- MetaSVM 0.08
- CADD 25.20
- PolyPhen-2 0.29
- SIFT 0.15
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.589
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)