R152P (p.Arg152Pro) variant of SOX9 (Transcription factor SOX-9)
R152P (p.Arg152Pro) 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 not provided; Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R152P (p.Arg152Pro) variant details
- p.Arg152Pro
- rs2143245214
- ClinGen CA400866334
- cosmic curated COSV55430
- ClinVar RCV003041323
- Pathogenic/Likely pathogenic
- not provided; Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype… (PMID 9002675)
- Cited in: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PMID 10446171)