D868N (p.Asp868Asn) variant of SETBP1 (SET-binding protein)
D868N (p.Asp868Asn) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SETBP1-related disorder; Intellectual disability, autosomal dominant 29; Schinze. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
D868N (p.Asp868Asn) variant details
- p.Asp868Asn
- rs267607042
- ClinGen CA114716
- NCI-TCGA Cosmic COSV5631
- NCI-TCGA Cosmic COSV5632
- Pathogenic
- SETBP1-related disorder; Intellectual disability, autosomal dominant 29; Schinze
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.83
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (SETBP1-related disorder; Intellectual disability, autosomal domi)
- EBI: Pathogenic (in SGMFS, ACML, JMML and MDS)
- UniProt: Pathogenic (in SGMFS, ACML, JMML and MDS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)