E436V (p.Glu436Val) variant of SATB2 (DNA-binding protein SATB2)
E436V (p.Glu436Val) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
E436V (p.Glu436Val) variant details
- p.Glu436Val
- rs1688103803
- ClinGen CA350386299
- ClinVar RCV001334830
- Ensembl rs1688103803
- Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)