V42L (p.Val42Leu) variant of NCF4 (Neutrophil cytosol factor 4)
V42L (p.Val42Leu) 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 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- rs371578849
- ClinGen CA10212871
- ClinVar RCV001238668
- ESP rs371578849
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.22
- MetaLR 0.21
- MetaSVM -0.70
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)