A32T (p.Ala32Thr) variant of SATB2 (DNA-binding protein SATB2)
A32T (p.Ala32Thr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs1461281024
- ClinGen CA350388499
- ClinVar RCV001297369
- gnomAD rs1461281024
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.19
- ESM-1b 0.30
- AlphaMissense 0.15
- CADD 28.70
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 8.3e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)