Y41Y (p.Tyr41Tyr) variant of NCF1 (Neutrophil cytosol factor 1)
Y41Y (p.Tyr41Tyr) in NCF1 (Neutrophil cytosol factor 1) is a synonymous 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.
Y41Y (p.Tyr41Tyr) variant details
- p.Tyr41Tyr
- gnomAD 7-74777317-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 9.94
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.401
- Literature evidence available