S19T (p.Ser19Thr) variant of SOX9 (Transcription factor SOX-9)
S19T (p.Ser19Thr) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs1908086972
- ClinGen CA400865418
- ClinVar RCV002105827
- TOPMed rs1908086972
- Likely benign
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.57
- MetaLR 0.95
- MetaSVM 1.06
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely benign (Camptomelic dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)