A91T (p.Ala91Thr) variant of CACNA1A (O00555)
A91T (p.Ala91Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The record also includes structural context.
A91T (p.Ala91Thr) variant details
- p.Ala91Thr
- cosmic curated COSV64195
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- UniProt: Uncertain significance
- Structural context available