D145E (p.Asp145Glu) variant of SATB2 (DNA-binding protein SATB2)
D145E (p.Asp145Glu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D145E (p.Asp145Glu) variant details
- p.Asp145Glu
- TOPMed rs1559017829
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available