Y394D (p.Tyr394Asp) variant of NCF2 (Neutrophil cytosol factor 2)
Y394D (p.Tyr394Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Chronic granulomatous disease; Granulomatous disease, chronic, autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y394D (p.Tyr394Asp) variant details
- p.Tyr394Asp
- rs749606885
- ClinGen CA1284649
- ClinVar RCV003603767
- ClinVar RCV004701817
- Pathogenic/Likely pathogenic
- Chronic granulomatous disease; Granulomatous disease, chronic, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.52
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Chronic granulomatous disease; Granulomatous disease, chronic, a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)