Q448E (p.Gln448Glu) variant of ADAMTS13 (Q76LX8)
Q448E (p.Gln448Glu) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q448E (p.Gln448Glu) variant details
- p.Gln448Glu
- rs2301612
- 1000Genomes rs2301612
- ESP rs2301612
- ExAC rs2301612
- Likely benign
- not specified; not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.08
- MetaLR 0.00
- MetaSVM -0.98
- CADD 9.39
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAYA population (allele frequency 0.68)
- Structural context available
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)
- Cited in: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. (PMID 12181489)