R77L (p.Arg77Leu) variant of NCF2 (Neutrophil cytosol factor 2)
R77L (p.Arg77Leu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CGD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R77L (p.Arg77Leu) variant details
- p.Arg77Leu
- ExAC rs119103275
- TOPMed rs119103275
- gnomAD rs119103275
- Uncertain significance
- in CGD2
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.42
- MetaLR 0.37
- MetaSVM -0.40
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.13
- EBI: Variant of uncertain significance (in CGD2)
- UniProt: Uncertain significance (in CGD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available