P93R (p.Pro93Arg) variant of TBX20 (T-box transcription factor TBX20)
P93R (p.Pro93Arg) in TBX20 (T-box transcription factor TBX20) 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 0.61 / 1. The record also includes population frequency data and structural context.
P93R (p.Pro93Arg) variant details
- p.Pro93Arg
- TOPMed rs1267512144
- gnomAD rs1267512144
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.48
- CADD 28.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available