A53T (p.Ala53Thr) variant of CACNA1A (O00555)
A53T (p.Ala53Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2. The record also includes published literature and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs2513709272
- ClinGen CA404971083
- ClinVar RCV003051835
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)