Q115* (p.Gln115Ter) variant of SATB2 (DNA-binding protein SATB2)
Q115* (p.Gln115Ter) 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 0.32 / 1. The record also includes published literature and structural context.
Q115* (p.Gln115Ter) variant details
- p.Gln115Ter
- rs1559052032
- ClinGen CA350386616
- ClinVar RCV000695069
- ClinVar RCV003258931
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.19
- MetaLR 0.09
- MetaSVM -1.02
- PolyPhen-2 0.16
- SIFT 0.01
- EVE 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)