S36C (p.Ser36Cys) variant of NCF1 (Neutrophil cytosol factor 1)
S36C (p.Ser36Cys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S36C (p.Ser36Cys) variant details
- p.Ser36Cys
- rs1554413265
- gnomAD 7-74778341-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 2.99
- SIFT 0.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.772
- Literature evidence available