L43C (p.Leu43Cys) variant of AGXT (P21549)
L43C (p.Leu43Cys) in AGXT (P21549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L43C (p.Leu43Cys) variant details
- p.Leu43Cys
- rs180177171
- gnomAD 2-240868985-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Most common in the East Asian population (allele frequency 5.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.693
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)