A378S (p.Ala378Ser) variant of CACNA2D2 (Q9NY47)
A378S (p.Ala378Ser) 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.
A378S (p.Ala378Ser) variant details
- p.Ala378Ser
- rs2471029504
- ClinGen CA352935319
- ClinVar RCV006560706
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available