C508Y (p.Cys508Tyr) variant of ADAMTS13 (Q76LX8)
C508Y (p.Cys508Tyr) in ADAMTS13 (Q76LX8) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C508Y (p.Cys508Tyr) variant details
- p.Cys508Tyr
- rs281875305
- ClinGen CA219986
- ClinVar RCV000006169
- ClinVar RCV000059755
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- MetaLR 0.72
- MetaSVM 0.69
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. (PMID 12181489)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)