D868A (p.Asp868Ala) variant of SETBP1 (SET-binding protein)
D868A (p.Asp868Ala) 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 0.78 / 1. The record also includes published literature.
D868A (p.Asp868Ala) variant details
- p.Asp868Ala
- rs267607041
- ClinGen CA114717
- ClinVar RCV000001088
- UniProt VAR 063806
- Pathogenic
- Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (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: Schinzel-Giedion Syndrome. (PMID 38452171)