R57C (p.Arg57Cys) variant of NCF4 (Neutrophil cytosol factor 4)
R57C (p.Arg57Cys) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R57C (p.Arg57Cys) variant details
- p.Arg57Cys
- ExAC rs767200492
- TOPMed rs767200492
- gnomAD rs767200492
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.69
- MetaLR 0.54
- MetaSVM 0.30
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available