Q144E (p.Gln144Glu) variant of SATB2 (DNA-binding protein SATB2)
Q144E (p.Gln144Glu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q144E (p.Gln144Glu) variant details
- p.Gln144Glu
- TOPMed rs1689783166
- gnomAD rs1689783166
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.49
- MetaSVM -0.18
- CADD 23.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available