Y84* (p.Tyr84Ter) variant of PYGM (P11217)
Y84* (p.Tyr84Ter) in PYGM (P11217) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y84* (p.Tyr84Ter) variant details
- p.Tyr84Ter
- rs1057517145
- ClinGen CA16041505
- ClinVar RCV000412392
- TOPMed rs1057517145
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)