A11E (p.Ala11Glu) variant of TBX5 (T-box transcription factor TBX5)
A11E (p.Ala11Glu) 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 0.38 / 1. The record also includes population frequency data and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- TOPMed rs1382901395
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.20
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available