G2R (p.Gly2Arg) variant of NCF1 (Neutrophil cytosol factor 1)
G2R (p.Gly2Arg) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- gnomAD 7-74774035-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.20
- MetaLR 0.28
- MetaSVM -0.69
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.10
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0976
- Literature evidence available