D133E (p.Asp133Glu) variant of SATB2 (DNA-binding protein SATB2)
D133E (p.Asp133Glu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D133E (p.Asp133Glu) variant details
- p.Asp133Glu
- rs1574568652
- ClinGen CA350389190
- ClinVar RCV003581750
- Ensembl rs1574568652
- Likely benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Likely benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)