T98K (p.Thr98Lys) variant of TBX5 (T-box transcription factor TBX5)
T98K (p.Thr98Lys) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T98K (p.Thr98Lys) variant details
- p.Thr98Lys
- ExAC rs772844823
- TOPMed rs772844823
- gnomAD rs772844823
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.70
- CADD 29.30
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available