A17V (p.Ala17Val) variant of NCF2 (Neutrophil cytosol factor 2)
A17V (p.Ala17Val) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- 1000Genomes rs201589700
- ExAC rs201589700
- TOPMed rs201589700
- gnomAD rs201589700
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.41
- CADD 23.20
- PolyPhen-2 0.40
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.191