E8* (p.Glu8Ter) variant of SOX2 (Transcription factor SOX-2)
E8* (p.Glu8Ter) 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 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- rs1208628241
- ClinGen CA355472961
- ClinVar RCV001269466
- gnomAD rs1208628241
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.66
- MetaLR 0.81
- MetaSVM 0.50
- PolyPhen-2 0.46
- SIFT 0.02
- MutPred 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.113
- Cited in: SOX2 Disorder. (PMID 20301477)