R50* (p.Arg50Ter) variant of PYGM (P11217)

Name: PYGM R50* (p.Arg50Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

R50* (p.Arg50Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.

R50* (p.Arg50Ter) variant details

p.Arg50Ter
rs116987552
ClinGen CA222884
cosmic curated COSV11340
ClinVar RCV000002388
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.848
CADD 34.00
EBI: Pathogenic
UniProt: Pathogenic
Most common in the 1KG:MXL population (allele frequency 0.0081)
Structural context available
Cited in: Dominant inheritance of McArdle syndrome. (PMID 1067063)
Cited in: Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387… (PMID 11168025)