S27Y (p.Ser27Tyr) variant of SOX9 (Transcription factor SOX-9)
S27Y (p.Ser27Tyr) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
S27Y (p.Ser27Tyr) variant details
- p.Ser27Tyr
- rs1664736339
- ClinGen CA400865471
- ClinVar RCV003083510
- TOPMed rs1664736339
- Likely benign
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.77
- MetaLR 0.75
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely benign (Camptomelic dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)