S19F (p.Ser19Phe) variant of SOX9 (Transcription factor SOX-9)
S19F (p.Ser19Phe) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- rs775652942
- ClinGen CA8738867
- ClinVar RCV002791628
- ExAC rs775652942
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.75
- MetaLR 0.96
- MetaSVM 1.11
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)