A43T (p.Ala43Thr) variant of SATB2 (DNA-binding protein SATB2)
A43T (p.Ala43Thr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Chromosome 2q32-q33 deletion syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- TOPMed rs1249539770
- gnomAD rs1249539770
- Conflicting interpretations
- Chromosome 2q32-q33 deletion syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Chromosome 2q32-q33 deletion syndrome; Inborn genetic diseases)
- UniProt: Conflicting interpretations
- Most common in the Latino/Admixed American population (allele frequency 5.5e-05)
- Structural context available