A2T (p.Ala2Thr) variant of NCF4 (Neutrophil cytosol factor 4)
A2T (p.Ala2Thr) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1219304314
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available