I673F (p.Ile673Phe) variant of ADAMTS13 (Q76LX8)
I673F (p.Ile673Phe) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I673F (p.Ile673Phe) variant details
- p.Ile673Phe
- rs281875307
- ClinGen CA220004
- ClinVar RCV000059761
- ClinVar RCV000779575
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.59
- MetaLR 0.47
- MetaSVM -0.22
- CADD 19.40
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. (PMID 14563640)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)