R106L (p.Arg106Leu) variant of TNXB (Tenascin-X)
R106L (p.Arg106Leu) in TNXB (Tenascin-X) 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 0.70 / 1. The record also includes population frequency data and structural context.
R106L (p.Arg106Leu) variant details
- p.Arg106Leu
- rs543374339
- ClinGen CA3735868
- ClinVar RCV002322733
- 1000Genomes rs543374339
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 24.50
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available