G515S (p.Gly515Ser) variant of SATB2 (DNA-binding protein SATB2)
G515S (p.Gly515Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes experimental measurements, published literature, and structural context.
G515S (p.Gly515Ser) variant details
- p.Gly515Ser
- rs1553544187
- ClinGen CA350384694
- cosmic curated COSV53480
- ClinVar RCV000656510
- Pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.321
- Cited in: Large-scale discovery of novel genetic causes of developmental disorders. (PMID 25533962)
- Cited in: Clinical and molecular consequences of disease-associated de novo mutations in SATB2. (PMID 28151491)