F45L (p.Phe45Leu) variant of TBX20 (T-box transcription factor TBX20)
F45L (p.Phe45Leu) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes population frequency data and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- rs771377074
- ClinGen CA4217571
- ClinVar RCV003341660
- ExAC rs771377074
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 0.88
- SIFT 0.57
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available