I108V (p.Ile108Val) variant of CACNA1A (O00555)
I108V (p.Ile108Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 42; not provided; Episodic ataxia ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
I108V (p.Ile108Val) variant details
- p.Ile108Val
- rs1599294284
- ClinGen CA404967909
- ClinVar RCV000793236
- ClinVar RCV001089748
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 42; not provided; Episodic ataxia ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.48
- MetaLR 0.55
- MetaSVM 0.26
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.54
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 42; not provided; Ep)
- 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)