A45T (p.Ala45Thr) variant of TBX5 (T-box transcription factor TBX5)
A45T (p.Ala45Thr) 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 0.48 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs942514260
- ClinGen CA244132183
- ClinVar RCV002387674
- TOPMed rs942514260
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available