R147* (p.Arg147Ter) variant of GYS2 (P54840)
R147* (p.Arg147Ter) in GYS2 (P54840) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely 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.
R147* (p.Arg147Ter) variant details
- p.Arg147Ter
- TOPMed rs748996941
- gnomAD rs748996941
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available