S119F (p.Ser119Phe) variant of ADAMTS13 (Q76LX8)
S119F (p.Ser119Phe) 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 0.73 / 1. The record also includes published literature and structural context.
S119F (p.Ser119Phe) variant details
- p.Ser119Phe
- rs281875291
- Ensembl rs281875291
- ClinGen CA220028
- ClinVar RCV000059769
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.45
- MetaLR 0.80
- MetaSVM 0.64
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Structural context available
- Cited in: A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of… (PMID 18443791)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)