K38M (p.Lys38Met) variant of NCF1 (Neutrophil cytosol factor 1)
K38M (p.Lys38Met) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K38M (p.Lys38Met) variant details
- p.Lys38Met
- gnomAD 7-74777307-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.38
- MetaLR 0.50
- MetaSVM -0.00
- CADD 25.50
- SIFT 0.02
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0599
- Literature evidence available