R17H (p.Arg17His) variant of NCF1 (Neutrophil cytosol factor 1)
R17H (p.Arg17His) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- gnomAD 7-74774081-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.49
- MetaLR 0.33
- MetaSVM -0.17
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0699
- Literature evidence available