E396G (p.Glu396Gly) variant of SATB2 (DNA-binding protein SATB2)
E396G (p.Glu396Gly) 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 0.62 / 1. The record also includes experimental measurements, published literature, and structural context.
E396G (p.Glu396Gly) variant details
- p.Glu396Gly
- rs1688108235
- ClinGen CA350386564
- ClinVar RCV001052478
- Ensembl rs1688108235
- Pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.31
- 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 -0.3
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)