R106C (p.Arg106Cys) variant of TNXB (Tenascin-X)
R106C (p.Arg106Cys) 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.
R106C (p.Arg106Cys) variant details
- p.Arg106Cys
- rs1189846234
- ClinGen CA363491698
- cosmic curated COSV64477
- ClinVar RCV002322613
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available