A19T (p.Ala19Thr) variant of TBX5 (T-box transcription factor TBX5)
A19T (p.Ala19Thr) 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 0.16 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- cosmic curated COSV10009
- 1000Genomes rs200461617
- ESP rs200461617
- ExAC rs200461617
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.13
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available