D235H (p.Asp235His) variant of ADAMTS13 (Q76LX8)
D235H (p.Asp235His) 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 0.89 / 1. The record also includes published literature and structural context.
D235H (p.Asp235His) variant details
- p.Asp235His
- rs281875337
- ClinGen CA220059
- ClinVar RCV000059779
- ClinVar RCV003313775
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.79
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Structural context available
- Cited in: Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. (PMID 12753286)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)