A350T (p.Ala350Thr) variant of TBX3 (T-box transcription factor TBX3)
A350T (p.Ala350Thr) 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 0.54 / 1. The record also includes population frequency data.
A350T (p.Ala350Thr) variant details
- p.Ala350Thr
- rs773465537
- ClinGen CA6810040
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57471
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.08
- MetaLR 0.65
- MetaSVM 0.07
- PolyPhen-2 0.62
- SIFT 0.26
- MutPred 0.17
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available