I108M (p.Ile108Met) variant of CACNA1A (O00555)
I108M (p.Ile108Met) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
I108M (p.Ile108Met) variant details
- p.Ile108Met
- rs2144947382
- ClinGen CA404967904
- ClinVar RCV001361329
- Ensembl rs2144947382
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.93
- MetaLR 0.62
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)