W113G (p.Trp113Gly) variant of TBX3 (T-box transcription factor TBX3)
W113G (p.Trp113Gly) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ulnar-mammary syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1.
W113G (p.Trp113Gly) variant details
- p.Trp113Gly
- rs2121158390
- ClinGen CA386872783
- NCI-TCGA Cosmic COSV5747
- ClinVar RCV001823052
- Likely pathogenic
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Likely pathogenic (Ulnar-mammary syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic