W130* (p.Trp130Ter) variant of GYS2 (P54840)
W130* (p.Trp130Ter) in GYS2 (P54840) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
W130* (p.Trp130Ter) variant details
- p.Trp130Ter
- gnomAD rs1205332809
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 37.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available