P176L (p.Pro176Leu) variant of SOX9 (Transcription factor SOX-9)
P176L (p.Pro176Leu) 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.
P176L (p.Pro176Leu) variant details
- p.Pro176Leu
- rs1555629170
- ClinGen CA400866495
- ClinVar RCV001960726
- Ensembl rs1555629170
- Pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)