T48A (p.Thr48Ala) variant of NCF2 (Neutrophil cytosol factor 2)
T48A (p.Thr48Ala) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- TOPMed rs1673575726
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.373