Q49* (p.Gln49Ter) variant of GYS2 (P54840)
Q49* (p.Gln49Ter) in GYS2 (P54840) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- TOPMed rs1038631937
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available