E46K (p.Glu46Lys) variant of NCF1 (Neutrophil cytosol factor 1)
E46K (p.Glu46Lys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs1554413145
- TOPMed rs1554413145
- gnomAD rs1554413145
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.34
- MetaLR 0.35
- MetaSVM -0.32
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.185