I118T (p.Ile118Thr) variant of SATB2 (DNA-binding protein SATB2)
I118T (p.Ile118Thr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
I118T (p.Ile118Thr) variant details
- p.Ile118Thr
- rs2468949079
- ClinGen CA350389291
- ClinVar RCV003990888
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)