C1024G (p.Cys1024Gly) variant of ADAMTS13 (Q76LX8)
C1024G (p.Cys1024Gly) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C1024G (p.Cys1024Gly) variant details
- p.Cys1024Gly
- rs121908472
- 1000Genomes rs121908472
- ESP rs121908472
- ExAC rs121908472
- Pathogenic/Likely pathogenic
- Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- MetaLR 0.93
- MetaSVM 1.13
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulm)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)