D34G (p.Asp34Gly) variant of NCF1 (Neutrophil cytosol factor 1)
D34G (p.Asp34Gly) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- ExAC rs781959708
- TOPMed rs781959708
- gnomAD rs781959708
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.71
- MetaLR 0.49
- MetaSVM 0.06
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.257