R66L (p.Arg66Leu) variant of NCF2 (Neutrophil cytosol factor 2)
R66L (p.Arg66Leu) 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 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R66L (p.Arg66Leu) variant details
- p.Arg66Leu
- 1000Genomes rs142803799
- ESP rs142803799
- ExAC rs142803799
- TOPMed rs142803799
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.02
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.83
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.695