G140D (p.Gly140Asp) variant of SOX9 (Transcription factor SOX-9)
G140D (p.Gly140Asp) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G140D (p.Gly140Asp) variant details
- p.Gly140Asp
- rs2143241065
- ClinGen CA400866236
- ClinVar RCV001378492
- Ensembl rs2143241065
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)