A34T (p.Ala34Thr) variant of TBX5 (T-box transcription factor TBX5)
A34T (p.Ala34Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- 1000Genomes rs368311885
- ESP rs368311885
- ExAC rs368311885
- TOPMed rs368311885
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available