Y87C (p.Tyr87Cys) variant of TBX5 (T-box transcription factor TBX5)
Y87C (p.Tyr87Cys) 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 0.63 / 1. The record also includes population frequency data and structural context.
Y87C (p.Tyr87Cys) variant details
- p.Tyr87Cys
- rs886039131
- ClinGen CA10587737
- ClinVar RCV000245821
- ClinVar RCV001364631
- Uncertain significance
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.61
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available