G392R (p.Gly392Arg) variant of SATB2 (DNA-binding protein SATB2)
G392R (p.Gly392Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
G392R (p.Gly392Arg) variant details
- p.Gly392Arg
- rs1688108689
- ClinGen CA350386593
- ClinVar RCV001310250
- Ensembl rs1688108689
- Pathogenic/Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.0414
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)