Y162C (p.Tyr162Cys) variant of CACNA2D2 (Q9NY47)
Y162C (p.Tyr162Cys) 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.
Y162C (p.Tyr162Cys) variant details
- p.Tyr162Cys
- rs2471049368
- ClinGen CA352946417
- ClinVar RCV006560295
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available