H96D (p.His96Asp) variant of ADAMTS13 (Q76LX8)
H96D (p.His96Asp) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
H96D (p.His96Asp) variant details
- p.His96Asp
- rs121908467
- Ensembl rs121908467
- ClinGen CA117739
- ClinVar RCV000006154
- Pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- MetaLR 0.83
- MetaSVM 0.93
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)