Y76* (p.Tyr76Ter) variant of PYGM (P11217)
Y76* (p.Tyr76Ter) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Y76* (p.Tyr76Ter) variant details
- p.Tyr76Ter
- rs2496674822
- ClinGen CA381111913
- ClinVar RCV003045214
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)