I73T (p.Ile73Thr) variant of SOX9 (Transcription factor SOX-9)
I73T (p.Ile73Thr) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
I73T (p.Ile73Thr) variant details
- p.Ile73Thr
- rs2143238589
- ClinGen CA400865782
- ClinVar RCV002272894
- Ensembl rs2143238589
- Pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)