V39S (p.Val39Ser) variant of NCF1 (Neutrophil cytosol factor 1)
V39S (p.Val39Ser) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V39S (p.Val39Ser) variant details
- p.Val39Ser
- rs1796511585
- gnomAD 7-74778335-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 1.24
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0072
- Literature evidence available