R193W (p.Arg193Trp) variant of ADAMTS13 (Q76LX8)
R193W (p.Arg193Trp) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R193W (p.Arg193Trp) variant details
- p.Arg193Trp
- rs281875287
- ClinGen CA220047
- ClinVar RCV000059775
- ClinVar RCV000516791
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.77
- MetaLR 0.71
- MetaSVM 0.27
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. (PMID 14563640)
- Cited in: Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15… (PMID 19055667)