Y172F (p.Tyr172Phe) variant of SOX9 (Transcription factor SOX-9)
Y172F (p.Tyr172Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
Y172F (p.Tyr172Phe) variant details
- p.Tyr172Phe
- rs1555629158
- ClinGen CA400866468
- ClinVar RCV002918289
- Ensembl rs1555629158
- 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: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)