A377T (p.Ala377Thr) variant of TBX3 (T-box transcription factor TBX3)
A377T (p.Ala377Thr) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
A377T (p.Ala377Thr) variant details
- p.Ala377Thr
- rs780968472
- NCI-TCGA Cosmic COSV9998
- cosmic curated COSV99983
- ExAC rs780968472
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM -0.01
- PolyPhen-2 0.95
- SIFT 0.30
- MutPred 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available