E47A (p.Glu47Ala) variant of TBX20 (T-box transcription factor TBX20)
E47A (p.Glu47Ala) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E47A (p.Glu47Ala) variant details
- p.Glu47Ala
- rs2128716171
- ClinGen CA367265405
- ClinVar RCV002014271
- Ensembl rs2128716171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.47
- CADD 24.80
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available