T89N (p.Thr89Asn) variant of TBX20 (T-box transcription factor TBX20)
T89N (p.Thr89Asn) 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.
T89N (p.Thr89Asn) variant details
- p.Thr89Asn
- rs1417603653
- ClinGen CA367265140
- ClinVar RCV003734933
- TOPMed rs1417603653
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.39
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available