G33W (p.Gly33Trp) variant of TBX5 (T-box transcription factor TBX5)
G33W (p.Gly33Trp) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G33W (p.Gly33Trp) variant details
- p.Gly33Trp
- rs751532982
- NCI-TCGA Cosmic COSV1000
- ExAC rs751532982
- TOPMed rs751532982
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.55
- CADD 28.80
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available