P170R (p.Pro170Arg) variant of SOX9 (Transcription factor SOX-9)
P170R (p.Pro170Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
P170R (p.Pro170Arg) variant details
- p.Pro170Arg
- rs1131691554
- ClinVar RCV004590716
- ClinVar RCV005102005
- UniProt VAR 003741
- Pathogenic
- Camptomelic dysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Camptomelic dysplasia; not provided)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PMID 10446171)
- Cited in: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype… (PMID 9002675)