G116R (p.Gly116Arg) variant of AGXT (P21549)
G116R (p.Gly116Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Primary hyperoxaluria, type I; Abnormality of metabolism/homeostas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- rs180177207
- ClinGen CA274270
- ClinVar RCV000169408
- ClinVar RCV001236818
- Likely pathogenic
- not provided; Primary hyperoxaluria, type I; Abnormality of metabolism/homeostas
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.86
- MetaSVM 0.93
- CADD 27.70
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.12
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)
- Cited in: Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate… (PMID 10453743)