R88Q (p.Arg88Gln) variant of SATB2 (DNA-binding protein SATB2)
R88Q (p.Arg88Gln) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- rs530118484
- ClinGen CA2046124
- NCI-TCGA Cosmic COSV5348
- cosmic curated COSV53484
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 28.00
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)