V32I (p.Val32Ile) variant of NCF2 (Neutrophil cytosol factor 2)
V32I (p.Val32Ile) 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 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- rs201869337
- ClinGen CA1285061
- cosmic curated COSV62314
- ClinVar RCV001038440
- Uncertain significance
- Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.98
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases; Granulomatous disease, chronic, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.533
- 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)