R268P (p.Arg268Pro) variant of ADAMTS13 (Q76LX8)
R268P (p.Arg268Pro) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R268P (p.Arg268Pro) variant details
- p.Arg268Pro
- rs121908477
- ClinGen CA117776
- ClinVar RCV000006168
- UniProt VAR 027117
- Pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.36
- MetaLR 0.22
- MetaSVM -0.67
- CADD 23.50
- PolyPhen-2 0.46
- SIFT 0.08
- ClinVar: Pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. (PMID 12181489)
- Cited in: Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura… (PMID 15009458)