T11P (p.Thr11Pro) variant of SOX9 (Transcription factor SOX-9)
T11P (p.Thr11Pro) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
T11P (p.Thr11Pro) variant details
- p.Thr11Pro
- TOPMed rs1287145712
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.73
- MetaLR 0.91
- MetaSVM 0.97
- CADD 24.90
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available