P176R (p.Pro176Arg) variant of SOX9 (Transcription factor SOX-9)
P176R (p.Pro176Arg) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; 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.
P176R (p.Pro176Arg) variant details
- p.Pro176Arg
- rs1555629170
- ClinGen CA400866496
- ClinVar RCV000520332
- ClinVar RCV001378337
- Likely pathogenic
- not provided; 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: Likely pathogenic (not provided; Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)