D25Y (p.Asp25Tyr) variant of TBX5 (T-box transcription factor TBX5)
D25Y (p.Asp25Tyr) 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 0.56 / 1. The record also includes population frequency data and structural context.
D25Y (p.Asp25Tyr) variant details
- p.Asp25Tyr
- rs148195311
- ClinGen CA6809729
- ClinVar RCV002384874
- ClinVar RCV005097109
- Uncertain significance
- Cardiovascular phenotype; Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.39
- CADD 27.50
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available