Q59* (p.Gln59Ter) variant of SOX10 (Transcription factor SOX-10)
Q59* (p.Gln59Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs1367116894
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- gnomAD rs1367116894
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available