S2A (p.Ser2Ala) variant of NCF2 (Neutrophil cytosol factor 2)
S2A (p.Ser2Ala) 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; Granulomatous disease, chronic, autosomal recessive, cy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- rs987968831
- ClinGen CA33993127
- ClinVar RCV003091115
- ClinVar RCV005675111
- Uncertain significance
- Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.17
- MetaLR 0.49
- MetaSVM -0.43
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Granulomatous disease, chronic, autosom)
- 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 -0.535
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)