A59P (p.Ala59Pro) variant of NCF2 (Neutrophil cytosol factor 2)
A59P (p.Ala59Pro) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A59P (p.Ala59Pro) variant details
- p.Ala59Pro
- 1000Genomes rs545984071
- ExAC rs545984071
- gnomAD rs545984071
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.52
- MetaLR 0.45
- MetaSVM -0.01
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.751