A596V (p.Ala596Val) variant of ADAMTS13 (Q76LX8)
A596V (p.Ala596Val) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A596V (p.Ala596Val) variant details
- p.Ala596Val
- rs281875299
- ClinGen CA219992
- NCI-TCGA Cosmic COSV6302
- cosmic curated COSV63021
- Pathogenic
- Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.68
- MetaLR 0.60
- MetaSVM 0.38
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulm)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura… (PMID 15009458)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)