G53E (p.Gly53Glu) variant of TBX5 (T-box transcription factor TBX5)
G53E (p.Gly53Glu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs369919453
- ClinGen CA6809689
- cosmic curated COSV10511
- ClinVar RCV003649055
- Uncertain significance
- Aortic valve disease 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 0.60
- SIFT 0.02
- ClinVar: Uncertain significance (Aortic valve disease 2; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available