A17E (p.Ala17Glu) variant of NCF2 (Neutrophil cytosol factor 2)
A17E (p.Ala17Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- cosmic curated COSV10083
- 1000Genomes rs201589700
- ExAC rs201589700
- TOPMed rs201589700
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.63
- MetaLR 0.53
- MetaSVM 0.04
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.191