E65A (p.Glu65Ala) variant of TNXB (Tenascin-X)
E65A (p.Glu65Ala) 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 0.33 / 1. The record also includes structural context.
E65A (p.Glu65Ala) variant details
- p.Glu65Ala
- rs1780509782
- ClinGen CA363492587
- ClinVar RCV004524368
- TOPMed rs1780509782
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.50
- MetaSVM -0.33
- SIFT 0.12
- EVE 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available