A2T (p.Ala2Thr) variant of TBX5 (T-box transcription factor TBX5)
A2T (p.Ala2Thr) 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 0.61 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1246421378
- ClinGen CA386863702
- ClinVar RCV002343050
- gnomAD rs1246421378
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.46
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available