R36C (p.Arg36Cys) variant of AGXT (P21549)
R36C (p.Arg36Cys) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- rs180177157
- ClinGen CA274183
- ClinVar RCV000169332
- ClinVar RCV001054309
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.044
- Cited in: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria… (PMID 17495019)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)