Y79* (p.Tyr79Ter) variant of GBA1 (P04062)
Y79* (p.Tyr79Ter) in GBA1 (P04062) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y79* (p.Tyr79Ter) variant details
- p.Tyr79Ter
- ExAC rs767693527
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available