L10R (p.Leu10Arg) variant of TBX5 (T-box transcription factor TBX5)
L10R (p.Leu10Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- rs1872009251
- ClinGen CA386863651
- ClinVar RCV003532386
- TOPMed rs1872009251
- Uncertain significance
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- CADD 31.00
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available