S11V (p.Ser11Val) variant of NCF4 (Neutrophil cytosol factor 4)
S11V (p.Ser11Val) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S11V (p.Ser11Val) variant details
- p.Ser11Val
- gnomAD 22-36861200-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 32.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available