M90C (p.Met90Cys) variant of SOX10 (Transcription factor SOX-10)
M90C (p.Met90Cys) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
M90C (p.Met90Cys) variant details
- p.Met90Cys
- rs2145777226
- ClinGen CA2499226184
- ClinVar RCV001542711
- ClinVar RCV001775033
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Waardenburg Syndrome Type I. (PMID 20301703)
- Cited in: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of… (PMID 24651602)