G42R (p.Gly42Arg) variant of AGXT (P21549)
G42R (p.Gly42Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- ExAC rs779515162
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.38
- ESM-1b 0.79
- AlphaMissense 0.18
- CADD 15.10
- PolyPhen-2 0.83
- SIFT 0.06
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- AGXT complementation assay *1 B: score 0.601