R1666P (p.Arg1666Pro) variant of CACNA1A (O00555)
R1666P (p.Arg1666Pro) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R1666P (p.Arg1666Pro) variant details
- p.Arg1666Pro
- rs1568447650
- ClinGen CA404336903
- ClinVar RCV001869248
- ClinVar RCV002227217
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- SIFT 0.00
- EVE 0.76
- MutPred 0.88
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine,)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- 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)