V105F (p.Val105Phe) variant of SOX9 (Transcription factor SOX-9)
V105F (p.Val105Phe) 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 0.94 / 1. The record also includes published literature and structural context.
V105F (p.Val105Phe) variant details
- p.Val105Phe
- rs2143239754
- ClinGen CA400865991
- cosmic curated COSV55430
- ClinVar RCV001926346
- Pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)