E27Q (p.Glu27Gln) variant of CACNB2 (Q08289)
E27Q (p.Glu27Gln) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- TOPMed rs2030299512
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available