V33L (p.Val33Leu) variant of TBX3 (T-box transcription factor TBX3)
V33L (p.Val33Leu) 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 0.49 / 1. The record also includes population frequency data.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- rs2499799706
- ClinGen CA2739277321
- ClinVar RCV003620606
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.22
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)