R169W (p.Arg169Trp) variant of TBX3 (T-box transcription factor TBX3)
R169W (p.Arg169Trp) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data.
R169W (p.Arg169Trp) variant details
- p.Arg169Trp
- rs1430142395
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57473
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.73
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)