S218P (p.Ser218Pro) variant of CACNA1A (O00555)
S218P (p.Ser218Pro) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
S218P (p.Ser218Pro) variant details
- p.Ser218Pro
- rs2144523407
- ClinGen CA404348658
- ClinVar RCV002227410
- Ensembl rs2144523407
- Likely pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- EBI: Likely pathogenic (in FHM1)
- UniProt: Likely 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)