E69D (p.Glu69Asp) variant of TBX5 (T-box transcription factor TBX5)
E69D (p.Glu69Asp) 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 0.28 / 1. The record also includes population frequency data and structural context.
E69D (p.Glu69Asp) variant details
- p.Glu69Asp
- rs760082444
- ClinGen CA6809680
- ClinVar RCV002422265
- ExAC rs760082444
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.29
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available