D34Y (p.Asp34Tyr) variant of NCF1 (Neutrophil cytosol factor 1)
D34Y (p.Asp34Tyr) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- gnomAD 7-74777294-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.86
- MetaLR 0.57
- MetaSVM 0.38
- CADD 27.00
- PolyPhen-2 0.61
- SIFT 0.00
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.257
- Literature evidence available