P17L (p.Pro17Leu) variant of NCF4 (Neutrophil cytosol factor 4)
P17L (p.Pro17Leu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Granulomatous disease, chronic, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs147322774
- ClinGen CA10212817
- ClinVar RCV000818793
- ClinVar RCV004028970
- Uncertain significance
- not specified; not provided; Granulomatous disease, chronic, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.47
- MetaLR 0.17
- MetaSVM -0.84
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Granulomatous disease, chronic, aut)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)