I871T (p.Ile871Thr) variant of SETBP1 (SET-binding protein)
I871T (p.Ile871Thr) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual disability, autosomal dominant 29; not provided; Schinzel-Giedion s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
I871T (p.Ile871Thr) variant details
- p.Ile871Thr
- rs267607038
- ClinGen CA114715
- ClinVar RCV000001086
- ClinVar RCV000255245
- Pathogenic/Likely pathogenic
- Intellectual disability, autosomal dominant 29; not provided; Schinzel-Giedion s
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.70
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability, autosomal dominant 29; not provided; Sc)
- EBI: Pathogenic (in SGMFS and ACML)
- UniProt: Pathogenic (in SGMFS and ACML)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (PMID 20436468)
- Cited in: Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. (PMID 23222956)