Q157R (p.Gln157Arg) variant of SATB2 (DNA-binding protein SATB2)
Q157R (p.Gln157Arg) 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 0.66 / 1. The record also includes structural context.
Q157R (p.Gln157Arg) variant details
- p.Gln157Arg
- Ensembl rs1689780791
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- ESM-1b 1.00
- AlphaMissense 0.26
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available