D12N (p.Asp12Asn) variant of NCF4 (Neutrophil cytosol factor 4)
D12N (p.Asp12Asn) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- TOPMed rs1447995490
- gnomAD rs1447995490
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.05
- CADD 25.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available