P782L (p.Pro782Leu) variant of CACNA2D2 (Q9NY47)
P782L (p.Pro782Leu) 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.
P782L (p.Pro782Leu) variant details
- p.Pro782Leu
- rs2470988341
- ClinGen CA352913681
- ClinVar RCV006560303
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available