G7R (p.Gly7Arg) variant of TBX5 (T-box transcription factor TBX5)
G7R (p.Gly7Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- TOPMed rs962421632
- gnomAD rs962421632
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.34
- CADD 24.40
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available