R42M (p.Arg42Met) variant of NCF1 (Neutrophil cytosol factor 1)
R42M (p.Arg42Met) 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.
R42M (p.Arg42Met) variant details
- p.Arg42Met
- gnomAD 7-74778332-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 3.24
- SIFT 0.06
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.107
- Literature evidence available