Q68E (p.Gln68Glu) variant of SATB2 (DNA-binding protein SATB2)
Q68E (p.Gln68Glu) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q68E (p.Gln68Glu) variant details
- p.Gln68Glu
- rs2469034270
- ClinGen CA350386923
- ClinVar RCV003066199
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 23.80
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)