I711M (p.Ile711Met) variant of CACNA1A (O00555)
I711M (p.Ile711Met) 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; Developmental and epilept. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I711M (p.Ile711Met) variant details
- p.Ile711Met
- rs764839814
- ClinGen CA404344180
- ClinVar RCV000519829
- ClinVar RCV001853632
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Spinocerebellar ataxia type 6; Developmental and epilept
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.67
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Spinocerebellar ataxia type 6; Developme)
- 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)