D578E (p.Asp578Glu) variant of CACNA2D2 (Q9NY47)
D578E (p.Asp578Glu) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The record also includes structural context.
D578E (p.Asp578Glu) variant details
- p.Asp578Glu
- rs1482667522
- ClinGen CA352924939
- ClinVar RCV006559912
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available