Q144* (p.Gln144Ter) variant of SATB2 (DNA-binding protein SATB2)
Q144* (p.Gln144Ter) 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 0.45 / 1. The record also includes published literature and structural context.
Q144* (p.Gln144Ter) variant details
- p.Gln144Ter
- rs1689783166
- ClinGen CA350389123
- ClinVar RCV003317025
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.19
- MetaLR 0.49
- MetaSVM -0.18
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)