T11I (p.Thr11Ile) variant of SOX9 (Transcription factor SOX-9)
T11I (p.Thr11Ile) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- TOPMed rs1244512563
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.74
- MetaLR 0.93
- MetaSVM 1.08
- CADD 24.30
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available