G22E (p.Gly22Glu) variant of CACNA1A (O00555)
G22E (p.Gly22Glu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic ataxia type 2; Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- rs1983011989
- ClinGen CA404971278
- ClinVar RCV001892122
- ClinVar RCV004785359
- Uncertain significance
- not provided; Episodic ataxia type 2; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.70
- MetaLR 0.81
- MetaSVM 0.70
- PolyPhen-2 0.44
- SIFT 0.01
- MutPred 0.43
- ClinVar: Uncertain significance (not provided; Episodic ataxia type 2; Developmental and epilepti)
- 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)