S23L (p.Ser23Leu) variant of NCF4 (Neutrophil cytosol factor 4)
S23L (p.Ser23Leu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs1001835888
- ClinGen CA323984523
- cosmic curated COSV50621
- ClinVar RCV001938696
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.84
- CADD 25.20
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)