A112D (p.Ala112Asp) variant of AGXT (P21549)
A112D (p.Ala112Asp) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A112D (p.Ala112Asp) variant details
- p.Ala112Asp
- rs796052061
- ClinGen CA275673
- ClinVar RCV000186299
- ClinVar RCV003556222
- Pathogenic/Likely pathogenic
- Primary hyperoxaluria; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Primary hyperoxaluria; not provided; Primary hyperoxaluria, type)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- AGXT complementation assay *2 B: score 0.83
- Cited in: The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D)… (PMID 12559847)
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)