Q33R (p.Gln33Arg) variant of NCF1 (Neutrophil cytosol factor 1)
Q33R (p.Gln33Arg) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD 7-74778356-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.87
- SIFT 0.81
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.177
- Literature evidence available