Q164P (p.Gln164Pro) variant of SOX9 (Transcription factor SOX-9)
Q164P (p.Gln164Pro) 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 0.81 / 1. The record also includes published literature and structural context.
Q164P (p.Gln164Pro) variant details
- p.Gln164Pro
- rs1567910689
- ClinGen CA400866407
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99818
- Pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.65
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)