V72A (p.Val72Ala) variant of NCF2 (Neutrophil cytosol factor 2)
V72A (p.Val72Ala) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- gnomAD rs1328721147
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.40
- MetaLR 0.42
- MetaSVM 0.15
- CADD 26.90
- PolyPhen-2 0.81
- SIFT 0.21
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.819