V40S (p.Val40Ser) variant of NCF1 (Neutrophil cytosol factor 1)
V40S (p.Val40Ser) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40S (p.Val40Ser) variant details
- p.Val40Ser
- gnomAD 7-74777310-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 24.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902
- Literature evidence available