T45P (p.Thr45Pro) variant of NCF1 (Neutrophil cytosol factor 1)
T45P (p.Thr45Pro) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T45P (p.Thr45Pro) variant details
- p.Thr45Pro
- rs1340497044
- gnomAD 7-74778352-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 4.44
- SIFT 0.05
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.229
- Literature evidence available