A112T (p.Ala112Thr) variant of SATB2 (DNA-binding protein SATB2)
A112T (p.Ala112Thr) 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 SATB2 associated disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- rs2105928809
- ClinGen CA350386638
- ClinVar RCV002260561
- Ensembl rs2105928809
- Uncertain significance
- SATB2 associated disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.55
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (SATB2 associated disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available