R398H (p.Arg398His) variant of ADAMTS13 (Q76LX8)
R398H (p.Arg398His) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R398H (p.Arg398His) variant details
- p.Arg398His
- rs121908471
- TOPMed rs121908471
- gnomAD rs121908471
- ClinGen CA117751
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.61
- MetaLR 0.39
- MetaSVM -0.05
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (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: 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)