V56E (p.Val56Glu) variant of TBX5 (T-box transcription factor TBX5)
V56E (p.Val56Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V56E (p.Val56Glu) variant details
- p.Val56Glu
- rs1287994219
- ClinGen CA386863261
- ClinVar RCV002414531
- gnomAD rs1287994219
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available