D868H (p.Asp868His) variant of SETBP1 (SET-binding protein)
D868H (p.Asp868His) 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 Schinzel-Giedion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature.
D868H (p.Asp868His) variant details
- p.Asp868His
- rs267607042
- ClinGen CA173390
- ClinVar RCV000147458
- TOPMed rs267607042
- Pathogenic/Likely pathogenic
- Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Schinzel-Giedion syndrome)
- EBI: Pathogenic (in myeloid malignancies)
- UniProt: Pathogenic (in myeloid malignancies)
- Cited in: Schinzel-Giedion Syndrome. (PMID 38452171)