M476T (p.Met476Thr) variant of SOX9 (Transcription factor SOX-9)
M476T (p.Met476Thr) 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 Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
M476T (p.Met476Thr) variant details
- p.Met476Thr
- rs1057518669
- ClinGen CA16043696
- ClinVar RCV000415154
- Ensembl rs1057518669
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.39
- MetaLR 0.37
- MetaSVM -0.20
- PolyPhen-2 0.50
- SIFT 0.02
- EVE 0.46
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)