A40Q (p.Ala40Gln) variant of AGXT (P21549)
A40Q (p.Ala40Gln) in AGXT (P21549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A40Q (p.Ala40Gln) variant details
- p.Ala40Gln
- rs180177166
- gnomAD 2-240868980-G-GCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 23.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.637
- Cited in: Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted… (PMID 25629080)
- Cited in: The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated… (PMID 15963748)