R269Q (p.Arg269Gln) variant of TBX3 (T-box transcription factor TBX3)
R269Q (p.Arg269Gln) 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 0.72 / 1. The record also includes population frequency data.
R269Q (p.Arg269Gln) variant details
- p.Arg269Gln
- rs775378442
- ClinGen CA6810102
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57469
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.81
- MetaLR 0.75
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.08
- MutPred 0.45
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available