K19E (p.Lys19Glu) variant of NCF2 (Neutrophil cytosol factor 2)
K19E (p.Lys19Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- Ensembl rs1673582296
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- MetaLR 0.27
- MetaSVM -0.82
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.981