E68Q (p.Glu68Gln) variant of TNXB (Tenascin-X)
E68Q (p.Glu68Gln) 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 0.25 / 1. The record also includes structural context.
E68Q (p.Glu68Gln) variant details
- p.Glu68Gln
- rs2483772276
- ClinGen CA363492507
- ClinVar RCV004524369
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- ESM-1b 0.00
- AlphaMissense 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available