S30* (p.Ser30Ter) variant of SOX10 (Transcription factor SOX-10)
S30* (p.Ser30Ter) in SOX10 (Transcription factor SOX-10) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- rs1932477493
- ClinGen CA411502148
- ClinVar RCV001092010
- ClinVar RCV001170068
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)