P59S (p.Pro59Ser) variant of NCF1 (Neutrophil cytosol factor 1)
P59S (p.Pro59Ser) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs1413615945
- gnomAD 7-74778376-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 3.94
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0549
- Literature evidence available