S11S (p.Ser11Ser) variant of NCF4 (Neutrophil cytosol factor 4)
S11S (p.Ser11Ser) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S11S (p.Ser11Ser) variant details
- p.Ser11Ser
- rs2145702589
- gnomAD 22-36864045-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0708
- CADD 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available