G54* (p.Gly54Ter) variant of AGL (Glycogen debranching enzyme)
G54* (p.Gly54Ter) in AGL (Glycogen debranching enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G54* (p.Gly54Ter) variant details
- p.Gly54Ter
- cosmic curated COSV54058
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available