D18E (p.Asp18Glu) variant of NCF2 (Neutrophil cytosol factor 2)
D18E (p.Asp18Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- TOPMed rs969698184
- gnomAD rs969698184
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- MetaLR 0.40
- MetaSVM -0.55
- CADD 22.60
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.729