P170A (p.Pro170Ala) variant of SOX9 (Transcription factor SOX-9)
P170A (p.Pro170Ala) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Camptomelic dysplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P170A (p.Pro170Ala) variant details
- p.Pro170Ala
- rs866706988
- ClinGen CA400866450
- ClinVar RCV001291597
- ClinVar RCV001329809
- Pathogenic/Likely pathogenic
- Camptomelic dysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (Camptomelic dysplasia; not provided)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)