A250V (p.Ala250Val) variant of ADAMTS13 (Q76LX8)
A250V (p.Ala250Val) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A250V (p.Ala250Val) variant details
- p.Ala250Val
- rs121908478
- ClinGen CA117785
- ClinVar RCV000006174
- UniProt VAR 027116
- Pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.74
- MetaLR 0.78
- MetaSVM 0.58
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the East Asian population (allele frequency 4e-05)
- Structural context available
- Cited in: Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. (PMID 15126318)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)