G116R (p.Gly116Arg) variant of SATB2 (DNA-binding protein SATB2)
G116R (p.Gly116Arg) 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 0.55 / 1. The record also includes published literature and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- rs1131691672
- ClinGen CA350386609
- ClinVar RCV000494383
- Ensembl rs1131691672
- Pathogenic/Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.83
- 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
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)