G42* (p.Gly42Ter) variant of SATB2 (DNA-binding protein SATB2)
G42* (p.Gly42Ter) in SATB2 (DNA-binding protein SATB2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G42* (p.Gly42Ter) variant details
- p.Gly42Ter
- rs1064793947
- ClinGen CA16617415
- ClinVar RCV000486598
- Ensembl rs1064793947
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available