C951G (p.Cys951Gly) variant of ADAMTS13 (Q76LX8)
C951G (p.Cys951Gly) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C951G (p.Cys951Gly) variant details
- p.Cys951Gly
- rs121908468
- TOPMed rs121908468
- gnomAD rs121908468
- ClinGen CA117742
- Pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.61
- MetaLR 0.49
- MetaSVM 0.21
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: 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)