Y75* (p.Tyr75Ter) variant of PYGM (P11217)
Y75* (p.Tyr75Ter) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y75* (p.Tyr75Ter) variant details
- p.Tyr75Ter
- rs773361937
- ClinGen CA6080339
- ClinVar RCV001382416
- ExAC rs773361937
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)