Y66Y (p.Tyr66Tyr) variant of AGXT (P21549)
Y66Y (p.Tyr66Tyr) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y66Y (p.Tyr66Tyr) variant details
- p.Tyr66Tyr
- rs121908521
- gnomAD 2-240869202-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.29
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- 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: An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in… (PMID 1879825)