E858K (p.Glu858Lys) variant of SETBP1 (SET-binding protein)
E858K (p.Glu858Lys) 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 Inborn genetic diseases; not provided; Schinzel-Giedion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
E858K (p.Glu858Lys) variant details
- p.Glu858Lys
- rs1178702025
- ClinGen CA402321729
- NCI-TCGA Cosmic COSV5631
- ClinVar RCV000622281
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Schinzel-Giedion syndrome)
- EBI: Pathogenic (in ACML)
- UniProt: Pathogenic (in ACML)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. (PMID 23222956)
- 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)