T229M (p.Thr229Met) variant of TBX3 (T-box transcription factor TBX3)
T229M (p.Thr229Met) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
T229M (p.Thr229Met) variant details
- p.Thr229Met
- rs554364556
- NCI-TCGA Cosmic COSV5747
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 25.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)