L58P (p.Leu58Pro) variant of TBX5 (T-box transcription factor TBX5)
L58P (p.Leu58Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- TOPMed rs1322050108
- gnomAD rs1322050108
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available