W108R (p.Trp108Arg) variant of AGXT (P21549)
W108R (p.Trp108Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W108R (p.Trp108Arg) variant details
- p.Trp108Arg
- rs180177197
- ClinGen CA274089
- ClinVar RCV000169249
- ClinVar RCV000812967
- Pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *2 b: score -0.0189
- Cited in: Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in… (PMID 15961946)
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)