H169Q (p.His169Gln) variant of SOX9 (Transcription factor SOX-9)
H169Q (p.His169Gln) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H169Q (p.His169Gln) variant details
- p.His169Gln
- rs2229989
- 1000Genomes rs2229989
- ESP rs2229989
- ExAC rs2229989
- Conflicting interpretations
- Inborn genetic diseases; not provided; Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.56
- PolyPhen-2 0.05
- SIFT 0.00
- EVE 0.99
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Population evidence available
- Structural context available
- Cited in: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. (PMID 19033726)
- Cited in: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella… (PMID 24038782)