R57P (p.Arg57Pro) variant of NCF4 (Neutrophil cytosol factor 4)
R57P (p.Arg57Pro) 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 0.73 / 1. The record also includes population frequency data and structural context.
R57P (p.Arg57Pro) variant details
- p.Arg57Pro
- ExAC rs746353194
- TOPMed rs746353194
- gnomAD rs746353194
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- MetaLR 0.56
- MetaSVM 0.31
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available