C1213Y (p.Cys1213Tyr) variant of ADAMTS13 (Q76LX8)
C1213Y (p.Cys1213Tyr) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C1213Y (p.Cys1213Tyr) variant details
- p.Cys1213Tyr
- rs121908474
- ClinGen CA117766
- ClinVar RCV000006164
- UniProt VAR 027137
- Pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.77
- MetaLR 0.65
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Population evidence available
- 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)