A192T (p.Ala192Thr) variant of TBX3 (T-box transcription factor TBX3)
A192T (p.Ala192Thr) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TBX3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
A192T (p.Ala192Thr) variant details
- p.Ala192Thr
- rs768160499
- ClinGen CA6810172
- NCI-TCGA Cosmic COSV5747
- NCI-TCGA Cosmic COSV9998
- Uncertain significance
- TBX3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.64
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (TBX3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)