Y48Y (p.Tyr48Tyr) variant of NCF1 (Neutrophil cytosol factor 1)
Y48Y (p.Tyr48Tyr) in NCF1 (Neutrophil cytosol factor 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y48Y (p.Tyr48Tyr) variant details
- p.Tyr48Tyr
- rs782597081
- gnomAD 7-74777338-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.88
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.171
- Literature evidence available