G47R (p.Gly47Arg) variant of AGXT (P21549)
G47R (p.Gly47Arg) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs180177173
- ClinGen CA275636
- NCI-TCGA Cosmic COSV5675
- ClinVar RCV000186282
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.91
- MetaSVM 0.95
- CADD 23.70
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.217
- Cited in: Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and… (PMID 26149463)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)