Y55* (p.Tyr55Ter) variant of CDC73 (Parafibromin)
Y55* (p.Tyr55Ter) in CDC73 (Parafibromin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y55* (p.Tyr55Ter) variant details
- p.Tyr55Ter
- gnomAD 1-193125145-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 35.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available