V138M (p.Val138Met) variant of TBX3 (T-box transcription factor TBX3)
V138M (p.Val138Met) 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 Ulnar-mammary syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
V138M (p.Val138Met) variant details
- p.Val138Met
- rs2499797131
- ClinGen CA386871982
- ClinVar RCV003991171
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.90
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)