G30R (p.Gly30Arg) variant of CACNA1A (O00555)
G30R (p.Gly30Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- ExAC rs774608710
- gnomAD rs774608710
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available