T89I (p.Thr89Ile) variant of TBX20 (T-box transcription factor TBX20)
T89I (p.Thr89Ile) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T89I (p.Thr89Ile) variant details
- p.Thr89Ile
- TOPMed rs1417603653
- gnomAD rs1417603653
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.37
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.32
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available