Y85* (p.Tyr85Ter) variant of PYGM (P11217)
Y85* (p.Tyr85Ter) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y85* (p.Tyr85Ter) variant details
- p.Tyr85Ter
- rs527236146
- ClinGen CA345696
- ClinVar RCV000128551
- Ensembl rs527236146
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)