G676R (p.Gly676Arg) variant of CACNA1A (O00555)
G676R (p.Gly676Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.93 / 1. The record also includes published literature and structural context.
G676R (p.Gly676Arg) variant details
- p.Gly676Arg
- rs2144980758
- ClinGen CA404344424
- ClinVar RCV001758187
- ClinVar RCV001882838
- Pathogenic/Likely pathogenic
- not provided; Episodic ataxia type 2; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; Episodic ataxia type 2; Developmental and epilepti)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)