Q100H (p.Gln100His) variant of NCF2 (Neutrophil cytosol factor 2)
Q100H (p.Gln100His) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q100H (p.Gln100His) variant details
- p.Gln100His
- ExAC rs773131016
- TOPMed rs773131016
- gnomAD rs773131016
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.42
- MetaLR 0.42
- MetaSVM -0.61
- CADD 23.70
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available