K52K (p.Lys52Lys) variant of NCF1 (Neutrophil cytosol factor 1)
K52K (p.Lys52Lys) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K52K (p.Lys52Lys) variant details
- p.Lys52Lys
- gnomAD 7-74779084-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 20.90
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available