Y172C (p.Tyr172Cys) variant of SOX9 (Transcription factor SOX-9)
Y172C (p.Tyr172Cys) 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 0.87 / 1. The record also includes published literature and structural context.
Y172C (p.Tyr172Cys) variant details
- p.Tyr172Cys
- rs1555629158
- ClinGen CA400866467
- cosmic curated COSV55423
- ClinVar RCV000578438
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 0.93
- PolyPhen-2 0.14
- SIFT 0.02
- EVE 1.00
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)