Y433D (p.Tyr433Asp) variant of CACNA2D2 (Q9NY47)
Y433D (p.Tyr433Asp) 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.
Y433D (p.Tyr433Asp) variant details
- p.Tyr433Asp
- rs2471027523
- ClinGen CA352931352
- ClinVar RCV006559800
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available