R118C (p.Arg118Cys) variant of AGXT (P21549)
R118C (p.Arg118Cys) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of AGXT-related disorder; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R118C (p.Arg118Cys) variant details
- p.Arg118Cys
- rs376844297
- ClinGen CA275677
- ClinVar RCV000186301
- ClinVar RCV000346525
- Conflicting interpretations
- AGXT-related disorder; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (AGXT-related disorder; not provided; Primary hyperoxaluria, type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- AGXT complementation assay *1 B: score 0.481
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)