G350V (p.Gly350Val) variant of AGXT (P21549)
G350V (p.Gly350Val) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G350V (p.Gly350Val) variant details
- p.Gly350Val
- ExAC rs180177156
- TOPMed rs180177156
- gnomAD rs180177156
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- AGXT complementation assay *2 b: score 0.0246