R43H (p.Arg43His) variant of NCF1 (Neutrophil cytosol factor 1)
R43H (p.Arg43His) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs1554413140
- gnomAD rs1554413140
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.34
- MetaLR 0.63
- MetaSVM -0.27
- CADD 23.00
- PolyPhen-2 0.84
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.156