G515D (p.Gly515Asp) variant of SATB2 (DNA-binding protein SATB2)
G515D (p.Gly515Asp) 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 Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
G515D (p.Gly515Asp) variant details
- p.Gly515Asp
- rs2105769270
- ClinGen CA350384691
- cosmic curated COSV10961
- ClinVar RCV001823352
- Pathogenic/Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Chromosome 2q32-q33 deletion syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.321
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)