G9D (p.Gly9Asp) variant of TBX5 (T-box transcription factor TBX5)
G9D (p.Gly9Asp) 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 Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- rs2540477851
- ClinGen CA386863658
- ClinVar RCV002900247
- NCI-TCGA TCGA novel
- Uncertain significance
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.31
- CADD 25.50
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available