Q44* (p.Gln44Ter) variant of AGXT (P21549)
Q44* (p.Gln44Ter) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs180177172
- ClinGen CA275633
- ClinVar RCV000186281
- Ensembl rs180177172
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- AGXT complementation assay *1 B: score 0.573
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)