P574S (p.Pro574Ser) variant of CACNA2D2 (Q9NY47)
P574S (p.Pro574Ser) 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.
P574S (p.Pro574Ser) variant details
- p.Pro574Ser
- rs2471017963
- ClinGen CA352925022
- ClinVar RCV006559986
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available