I871S (p.Ile871Ser) variant of SETBP1 (SET-binding protein)
I871S (p.Ile871Ser) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Schinzel-Giedion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature.
I871S (p.Ile871Ser) variant details
- p.Ile871Ser
- rs267607038
- ClinGen CA402321823
- ClinVar RCV000509340
- ClinVar RCV001007402
- Pathogenic
- Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Schinzel-Giedion syndrome)
- EBI: Pathogenic (in AML)
- UniProt: Pathogenic (in AML)
- Cited in: Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated… (PMID 23889083)
- Cited in: SETBP1 mutation analysis in 944 patients with MDS and AML. (PMID 23648668)