A9D (p.Ala9Asp) variant of NCF4 (Neutrophil cytosol factor 4)
A9D (p.Ala9Asp) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- TOPMed rs1028485815
- gnomAD rs1028485815
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.98
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available