W59* (p.Trp59Ter) variant of GYS2 (P54840)
W59* (p.Trp59Ter) 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 0.86 / 1. The record also includes population frequency data and structural context.
W59* (p.Trp59Ter) variant details
- p.Trp59Ter
- ExAC rs201868350
- TOPMed rs201868350
- gnomAD rs201868350
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available