CACNA1A p.Arg55fs
c.165_166del · VCV4787333
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
episodic ataxia type 2
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 47 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CACNA1A
- Protein
- p.Arg55fs
- Coding
- c.165_166del
- MANE Select
- NM_001127222
- Type
- Microsatellite
- Location
- chr19:13506059 (GRCh38)
- Gene constraint
- LOEUF 0.331 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 58.34 · 4 PDB
Disease context
episodic ataxia type 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: developmental and epileptic encephalopathy, 42
For Familial paroxysmal ataxia (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (United States)
Similar variants
- CACNA1A p.Ala446Ter Pathogenic/Likely pathogenic ★★ same condition
- CACNA1A p.Leu1863fs Pathogenic ★★ same condition
- CACNA1A p.Phe1501del Pathogenic ★★ same condition
- CACNA1A p.Phe1703del Pathogenic ★★ same condition
- CACNA1A c.6309_6311del Uncertain significance ★★ same condition
- CACNA1A p.990EG[1] Uncertain significance ★★ same condition
- CACNA1A p.Asn1274del Uncertain significance ★★ same condition
- CACNA1A p.Asn834del Uncertain significance ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cacna1a-p-arg55fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown