I613M (p.Ile613Met) variant of CACNA1A (O00555)
I613M (p.Ile613Met) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
I613M (p.Ile613Met) variant details
- p.Ile613Met
- rs374686479
- ClinGen CA404344874
- ClinVar RCV000853265
- ClinVar RCV003224808
- Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.56
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.74
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Likely pathogenic
- UniProt: Likely 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)