T11S (p.Thr11Ser) variant of SOX9 (Transcription factor SOX-9)
T11S (p.Thr11Ser) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- TOPMed rs1244512563
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.44
- MetaLR 0.83
- MetaSVM 0.51
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available