T45S (p.Thr45Ser) variant of NCF1 (Neutrophil cytosol factor 1)
T45S (p.Thr45Ser) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T45S (p.Thr45Ser) variant details
- p.Thr45Ser
- TOPMed rs1181241617
- gnomAD rs1181241617
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.89
- CADD 14.90
- PolyPhen-2 0.24
- SIFT 0.79
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.229