A158V (p.Ala158Val) variant of SOX9 (Transcription factor SOX-9)
A158V (p.Ala158Val) 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 0.95 / 1. The record also includes published literature and structural context.
A158V (p.Ala158Val) variant details
- p.Ala158Val
- rs2143245422
- ClinGen CA400866374
- cosmic curated COSV55422
- ClinVar RCV001552906
- Pathogenic/Likely pathogenic
- not provided; Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)