D1316E (p.Asp1316Glu) variant of CACNA1A (O00555)
D1316E (p.Asp1316Glu) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D1316E (p.Asp1316Glu) variant details
- p.Asp1316Glu
- rs2144833336
- ClinGen CA404340217
- ClinVar RCV002227405
- Ensembl rs2144833336
- Likely pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.85
- CADD 23.70
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)