R88S (p.Arg88Ser) variant of CACNA1A (O00555)
R88S (p.Arg88Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CACNA1A-related disorder. The record also includes structural context.
R88S (p.Arg88Ser) variant details
- p.Arg88Ser
- rs2513708594
- ClinGen CA404970846
- ClinVar RCV003985593
- Uncertain significance
- CACNA1A-related disorder
- Missense
- ClinVar: Uncertain significance (CACNA1A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available