E566K (p.Glu566Lys) variant of SATB2 (DNA-binding protein SATB2)
E566K (p.Glu566Lys) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
E566K (p.Glu566Lys) variant details
- p.Glu566Lys
- rs1064795530
- ClinGen CA16617409
- NCI-TCGA Cosmic COSV5347
- cosmic curated COSV53477
- Pathogenic/Likely pathogenic
- SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical and molecular consequences of disease-associated de novo mutations in SATB2. (PMID 28151491)
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)