A228T (p.Ala228Thr) variant of TBX3 (T-box transcription factor TBX3)
A228T (p.Ala228Thr) 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 0.41 / 1. The record also includes population frequency data.
A228T (p.Ala228Thr) variant details
- p.Ala228Thr
- rs765693432
- ClinGen CA6810135
- NCI-TCGA Cosmic COSV5746
- ClinVar RCV003410399
- Uncertain significance
- TBX3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 22.10
- ClinVar: Uncertain significance (TBX3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)