F57I (p.Phe57Ile) variant of TBX5 (T-box transcription factor TBX5)
F57I (p.Phe57Ile) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F57I (p.Phe57Ile) variant details
- p.Phe57Ile
- 1000Genomes rs562706670
- ExAC rs562706670
- gnomAD rs562706670
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available