R43* (p.Arg43Ter) variant of SOX10 (Transcription factor SOX-10)
R43* (p.Arg43Ter) 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 0.42 / 1. The record also includes population frequency data and structural context.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs1555939523
- ClinGen CA411502024
- ClinVar RCV000660272
- ClinVar RCV001290165
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available