Q115E (p.Gln115Glu) variant of SATB2 (DNA-binding protein SATB2)
Q115E (p.Gln115Glu) 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 0.45 / 1. The record also includes published literature and structural context.
Q115E (p.Gln115Glu) variant details
- p.Gln115Glu
- rs1559052032
- ClinGen CA350386617
- ClinVar RCV001367278
- Ensembl rs1559052032
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.09
- MetaSVM -1.02
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)