A4T (p.Ala4Thr) variant of TBX5 (T-box transcription factor TBX5)
A4T (p.Ala4Thr) 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 Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1319312312
- ClinGen CA386863691
- NCI-TCGA Cosmic COSV5985
- cosmic curated COSV59859
- Uncertain significance
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.18
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available