N52K (p.Asn52Lys) variant of NCF2 (Neutrophil cytosol factor 2)
N52K (p.Asn52Lys) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N52K (p.Asn52Lys) variant details
- p.Asn52Lys
- ExAC rs752384353
- TOPMed rs752384353
- gnomAD rs752384353
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.98
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.738