S18* (p.Ser18Ter) variant of SOX2 (Transcription factor SOX-2)
S18* (p.Ser18Ter) 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 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- rs750091101
- ClinGen CA2717231
- ClinVar RCV001061085
- ExAC rs750091101
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.893
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.004
- Cited in: SOX2 Disorder. (PMID 20301477)