R8P (p.Arg8Pro) variant of NCF4 (Neutrophil cytosol factor 4)
R8P (p.Arg8Pro) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- ExAC rs762576326
- TOPMed rs762576326
- gnomAD rs762576326
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.00
- CADD 29.50
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available