Y66* (p.Tyr66Ter) variant of AGXT (P21549)
Y66* (p.Tyr66Ter) in AGXT (P21549) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y66* (p.Tyr66Ter) variant details
- p.Tyr66Ter
- rs121908521
- ClinGen CA351313417
- ClinVar RCV001263729
- ExAC rs121908521
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- AGXT complementation assay *1 b: score 0.0199
- Cited in: Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients… (PMID 1961759)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)