G870D (p.Gly870Asp) variant of SETBP1 (SET-binding protein)
G870D (p.Gly870Asp) 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 not provided; Schinzel-Giedion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature.
G870D (p.Gly870Asp) variant details
- p.Gly870Asp
- rs267607039
- ClinGen CA114718
- ClinVar RCV000001089
- UniProt VAR 063808
- Pathogenic/Likely pathogenic
- not provided; Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (not provided; Schinzel-Giedion syndrome)
- EBI: Pathogenic (in SGMFS)
- UniProt: Pathogenic (in SGMFS)
- Cited in: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (PMID 20436468)
- Cited in: SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy… (PMID 23628959)