R17C (p.Arg17Cys) variant of NCF1 (Neutrophil cytosol factor 1)
R17C (p.Arg17Cys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- gnomAD 7-74774080-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.41
- MetaLR 0.29
- MetaSVM -0.44
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0699
- Literature evidence available