M53V (p.Met53Val) variant of NCF2 (Neutrophil cytosol factor 2)
M53V (p.Met53Val) 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 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M53V (p.Met53Val) variant details
- p.Met53Val
- rs993538958
- ClinGen CA33992941
- ClinVar RCV001219158
- TOPMed rs993538958
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.02
- CADD 6.74
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.924
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)