L24I (p.Leu24Ile) variant of AGXT (P21549)
L24I (p.Leu24Ile) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L24I (p.Leu24Ile) variant details
- p.Leu24Ile
- rs754037121
- ClinGen CA2208974
- ClinVar RCV001230740
- ClinVar RCV001833997
- Uncertain significance
- Primary hyperoxaluria, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.10
- PolyPhen-2 0.28
- SIFT 0.09
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.941
- 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)