R5* (p.Arg5Ter) variant of GYS2 (P54840)
R5* (p.Arg5Ter) in GYS2 (P54840) 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 0.63 / 1. The record also includes population frequency data and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- ExAC rs775874593
- TOPMed rs775874593
- gnomAD rs775874593
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 26.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available