R1348Q (p.Arg1348Gln) variant of CACNA1A (O00555)
R1348Q (p.Arg1348Gln) 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; Developmental and epileptic encephalopathy, 42; Migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R1348Q (p.Arg1348Gln) variant details
- p.Arg1348Gln
- rs1057520918
- ClinGen CA16607714
- cosmic curated COSV10080
- ClinVar RCV000435974
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.75
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- 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)