F58Y (p.Phe58Tyr) variant of NCF1 (Neutrophil cytosol factor 1)
F58Y (p.Phe58Tyr) in NCF1 (Neutrophil cytosol factor 1) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F58Y (p.Phe58Tyr) variant details
- p.Phe58Tyr
- 1000Genomes rs587716514
- ExAC rs587716514
- gnomAD rs587716514
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.66
- MetaLR 0.52
- MetaSVM 0.12
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.064