R1672P (p.Arg1672Pro) variant of CACNA1A (O00555)
R1672P (p.Arg1672Pro) 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 0.90 / 1. The record also includes published literature and structural context.
R1672P (p.Arg1672Pro) variant details
- p.Arg1672Pro
- rs1057519429
- ClinGen CA16044236
- ClinVar RCV000416438
- ClinVar RCV000556499
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.71
- MutPred 0.77
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. (PMID 28742085)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)