R1123C (p.Arg1123Cys) variant of ADAMTS13 (Q76LX8)
R1123C (p.Arg1123Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R1123C (p.Arg1123Cys) variant details
- p.Arg1123Cys
- rs281875340
- TOPMed rs281875340
- gnomAD rs281875340
- ClinGen CA220025
- Pathogenic/Likely pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.59
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. (PMID 14563640)
- Cited in: In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic… (PMID 17003922)