V70M (p.Val70Met) variant of TBX5 (T-box transcription factor TBX5)
V70M (p.Val70Met) 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 0.64 / 1. The record also includes population frequency data and structural context.
V70M (p.Val70Met) variant details
- p.Val70Met
- rs1378993147
- ClinGen CA386863086
- ClinVar RCV002424025
- ClinVar RCV005097936
- Uncertain significance
- Aortic valve disease 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.56
- CADD 24.00
- PolyPhen-2 0.26
- SIFT 0.04
- ClinVar: Uncertain significance (Aortic valve disease 2; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available