R43G (p.Arg43Gly) variant of NCF1 (Neutrophil cytosol factor 1)
R43G (p.Arg43Gly) 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.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- gnomAD 7-74777321-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.42
- MetaLR 0.54
- MetaSVM -0.38
- CADD 19.80
- PolyPhen-2 0.17
- SIFT 0.19
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.156
- Literature evidence available