M113I (p.Met113Ile) variant of SOX9 (Transcription factor SOX-9)
M113I (p.Met113Ile) 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 0.93 / 1. The record also includes published literature and structural context.
M113I (p.Met113Ile) variant details
- p.Met113Ile
- rs2143240113
- ClinGen CA400866052
- ClinVar RCV002029596
- Ensembl rs2143240113
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Likely pathogenic (in CMD1)
- UniProt: Likely pathogenic (in CMD1)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)