A64G (p.Ala64Gly) variant of NCF1 (Neutrophil cytosol factor 1)
A64G (p.Ala64Gly) in NCF1 (Neutrophil cytosol factor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, experimental measurements, and structural context.
A64G (p.Ala64Gly) variant details
- p.Ala64Gly
- gnomAD rs1375017077
- Uncertain significance
- Missense
- MetaLR 0.12
- MetaSVM -1.02
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0245