F154L (p.Phe154Leu) variant of SOX9 (Transcription factor SOX-9)
F154L (p.Phe154Leu) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fetal anomalies with a likely genetic cause. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
F154L (p.Phe154Leu) variant details
- p.Phe154Leu
- rs137853129
- Ensembl rs137853129
- ClinGen CA252319
- ClinVar RCV000002623
- Likely pathogenic
- Fetal anomalies with a likely genetic cause
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Fetal anomalies with a likely genetic cause)
- 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)