Y74C (p.Tyr74Cys) variant of NCF2 (Neutrophil cytosol factor 2)
Y74C (p.Tyr74Cys) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y74C (p.Tyr74Cys) variant details
- p.Tyr74Cys
- ExAC rs763140210
- TOPMed rs763140210
- gnomAD rs763140210
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.89
- MetaLR 0.64
- MetaSVM 0.39
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.13
- Population evidence available
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.7