T390I (p.Thr390Ile) variant of SATB2 (DNA-binding protein SATB2)
T390I (p.Thr390Ile) 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 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
T390I (p.Thr390Ile) variant details
- p.Thr390Ile
- rs863224917
- ClinGen CA279019
- ClinVar RCV000199456
- Ensembl rs863224917
- Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.41
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.163
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)