G34R (p.Gly34Arg) variant of CACNA1A (O00555)
G34R (p.Gly34Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs1402827595
- ClinGen CA404971211
- ClinVar RCV003799570
- ClinVar RCV004736402
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.58
- MetaLR 0.88
- MetaSVM 0.67
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)