G38C (p.Gly38Cys) variant of SATB2 (DNA-binding protein SATB2)
G38C (p.Gly38Cys) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- rs1458922428
- ClinGen CA350388458
- ClinVar RCV002045755
- gnomAD rs1458922428
- Likely benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.50
- ESM-1b 0.88
- AlphaMissense 0.44
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)