L55M (p.Leu55Met) variant of TBX20 (T-box transcription factor TBX20)
L55M (p.Leu55Met) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L55M (p.Leu55Met) variant details
- p.Leu55Met
- TOPMed rs1790277352
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.85
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available