R106H (p.Arg106His) variant of TNXB (Tenascin-X)
R106H (p.Arg106His) 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 0.71 / 1. The record also includes population frequency data and structural context.
R106H (p.Arg106His) variant details
- p.Arg106His
- cosmic curated COSV64483
- 1000Genomes rs543374339
- ExAC rs543374339
- TOPMed rs543374339
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available