T98M (p.Thr98Met) variant of TBX5 (T-box transcription factor TBX5)
T98M (p.Thr98Met) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T98M (p.Thr98Met) variant details
- p.Thr98Met
- rs772844823
- ClinGen CA244128692
- cosmic curated COSV59866
- ClinVar RCV001303559
- Uncertain significance
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.77
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available