C758R (p.Cys758Arg) variant of ADAMTS13 (Q76LX8)
C758R (p.Cys758Arg) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C758R (p.Cys758Arg) variant details
- p.Cys758Arg
- rs281875300
- gnomAD rs281875300
- ClinGen CA220007
- ClinVar RCV000059762
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.66
- MetaLR 0.95
- MetaSVM 0.90
- CADD 23.20
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura… (PMID 15009458)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)