A1507T (p.Ala1507Thr) variant of CACNA1A (O00555)
A1507T (p.Ala1507Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.90 / 1. The record also includes published literature and structural context.
A1507T (p.Ala1507Thr) variant details
- p.Ala1507Thr
- rs886037946
- ClinGen CA404338879
- ClinVar RCV002227402
- ClinVar RCV003774680
- Pathogenic
- Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine, familial hemipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.00
- EVE 0.69
- MutPred 0.78
- ClinVar: Pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- EBI: Pathogenic (in DEE42)
- UniProt: Pathogenic (in DEE42)
- 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)