Y69* (p.Tyr69Ter) variant of GYS2 (P54840)
Y69* (p.Tyr69Ter) in GYS2 (P54840) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y69* (p.Tyr69Ter) variant details
- p.Tyr69Ter
- ExAC rs774656122
- gnomAD rs774656122
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available