E6* (p.Glu6Ter) variant of SOX2 (Transcription factor SOX-2)
E6* (p.Glu6Ter) in SOX2 (Transcription factor SOX-2) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- rs1273721978
- ClinGen CA355472948
- ClinVar RCV001267865
- gnomAD rs1273721978
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.841
- Cited in: SOX2 Disorder. (PMID 20301477)