M113V (p.Met113Val) variant of SOX9 (Transcription factor SOX-9)
M113V (p.Met113Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M113V (p.Met113Val) variant details
- p.Met113Val
- rs2143240089
- ClinGen CA400866045
- NCI-TCGA Cosmic COSV5542
- cosmic curated COSV55425
- Pathogenic
- Camptomelic dysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.30
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Camptomelic dysplasia; not provided)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Population evidence available
- Structural context available
- Cited in: Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic… (PMID 20513132)
- Cited in: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PMID 10446171)