K38N (p.Lys38Asn) variant of NCF1 (Neutrophil cytosol factor 1)
K38N (p.Lys38Asn) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- rs1554413133
- gnomAD 7-74777307-AGG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 26.40
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0599
- Literature evidence available