R692C (p.Arg692Cys) variant of ADAMTS13 (Q76LX8)
R692C (p.Arg692Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R692C (p.Arg692Cys) variant details
- p.Arg692Cys
- rs121908475
- ExAC rs121908475
- TOPMed rs121908475
- gnomAD rs121908475
- Pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.42
- CADD 23.00
- PolyPhen-2 0.78
- SIFT 0.04
- ClinVar: Pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)
- Cited in: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. (PMID 12181489)