L232Q (p.Leu232Gln) variant of ADAMTS13 (Q76LX8)
L232Q (p.Leu232Gln) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L232Q (p.Leu232Gln) variant details
- p.Leu232Gln
- rs281875292
- Ensembl rs281875292
- ClinGen CA220053
- ClinVar RCV000059777
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.77
- MetaLR 0.40
- MetaSVM -0.20
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Cited in: von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. (PMID 12393505)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)