R102L (p.Arg102Leu) variant of NCF2 (Neutrophil cytosol factor 2)
R102L (p.Arg102Leu) 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 0.70 / 1. The record also includes population frequency data and structural context.
R102L (p.Arg102Leu) variant details
- p.Arg102Leu
- ExAC rs137854515
- TOPMed rs137854515
- gnomAD rs137854515
- Uncertain significance
- in CGD2
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.68
- MetaLR 0.63
- MetaSVM 0.31
- CADD 24.90
- PolyPhen-2 0.81
- SIFT 0.25
- EBI: Variant of uncertain significance (in CGD2)
- UniProt: Uncertain significance (in CGD2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available