G156R (p.Gly156Arg) variant of AGXT (P21549)
G156R (p.Gly156Arg) 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 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G156R (p.Gly156Arg) variant details
- p.Gly156Arg
- rs121908530
- ClinGen CA68178380
- ClinVar RCV000668336
- ClinVar RCV002530741
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 32.00
- PolyPhen-2 0.99
- 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 African/African-American population (allele frequency 4.8e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.407
- 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)