V40M (p.Val40Met) variant of NCF1 (Neutrophil cytosol factor 1)
V40M (p.Val40Met) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- rs1314044604
- gnomAD 7-74778358-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0553
- CADD 1.40
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902
- Literature evidence available