M113L (p.Met113Leu) variant of SOX9 (Transcription factor SOX-9)
M113L (p.Met113Leu) 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 0.95 / 1. The record also includes published literature and structural context.
M113L (p.Met113Leu) variant details
- p.Met113Leu
- rs2143240089
- ClinGen CA400866046
- ClinVar RCV002814459
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- 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)