L1128R (p.Leu1128Arg) variant of CACNA2D2 (Q9NY47)
L1128R (p.Leu1128Arg) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebellar atrophy with seizures and variable developmental delay. The record also includes structural context.
L1128R (p.Leu1128Arg) variant details
- p.Leu1128Arg
- rs2470971793
- ClinGen CA352961012
- ClinVar RCV002285088
- Likely pathogenic
- Cerebellar atrophy with seizures and variable developmental delay
- Missense
- ClinVar: Likely pathogenic (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available