Q54H (p.Gln54His) variant of CACNA1A (O00555)
Q54H (p.Gln54His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 42; Episodic ataxia ty. The record also includes structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- cosmic curated COSV64191
- cosmic curated COSV10080
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 42; Episodic ataxia ty
- Missense
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 42; Ep)
- UniProt: Uncertain significance
- Structural context available