A158T (p.Ala158Thr) variant of SOX9 (Transcription factor SOX-9)
A158T (p.Ala158Thr) 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 0.94 / 1. The record also includes published literature and structural context.
A158T (p.Ala158Thr) variant details
- p.Ala158Thr
- rs137853130
- ClinGen CA115588
- ClinVar RCV000002624
- ClinVar RCV001851587
- Pathogenic
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear… (PMID 11323423)
- Cited in: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PMID 10446171)