P170T (p.Pro170Thr) variant of SOX9 (Transcription factor SOX-9)
P170T (p.Pro170Thr) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Camptomelic dysplasia. The record also includes published literature and structural context.
P170T (p.Pro170Thr) variant details
- p.Pro170Thr
- rs2509624560
- ClinGen CA2739268447
- ClinVar RCV003604670
- Likely pathogenic
- not provided; Camptomelic dysplasia
- Missense
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Likely pathogenic (in CMD1)
- UniProt: Likely pathogenic (in CMD1)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)