Q136P (p.Gln136Pro) variant of TNXB (Tenascin-X)
Q136P (p.Gln136Pro) 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 0.75 / 1. The record also includes structural context.
Q136P (p.Gln136Pro) variant details
- p.Gln136Pro
- rs2483767587
- ClinGen CA363489147
- ClinVar RCV003368216
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- ESM-1b 1.00
- AlphaMissense 0.45
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available