CACNA1E p.Arg911Pro
c.2732G>C · rs781514358 · VCV1582700
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4029 | ambiguous |
|---|---|---|
| REVEL | 0.547 | indeterminate |
| SaProt | LLR -6.54 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 8.5 | GERP 1.1, phastCons 1 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 10 kb · p 0.093 · regional, not allelic |
| Overall | ||
| CADD | 23.6 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CACNA1E
- Protein
- p.Arg911Pro
- Coding
- c.2732G>C
- MANE Select
- NM_001205293
- dbSNP
- rs781514358
- Type
- single nucleotide variant
- Location
- chr1:181732818 (GRCh38)
- Gene constraint
- LOEUF 0.221 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 60.56 · 5 PDB
- Residue 911
- a UniProt-annotated variant site (in dee69; uncertain significance); the 'disordered' region
Similar variants
- CACNA1E p.Arg911Gln Uncertain significance ★ ⚠ same residue
- CACNA1E p.Arg911Gly Likely benign ★ same residue
- CACNA1E p.Arg911Trp Likely benign ★ ⚠ same residue
- CACNA1E p.Ala702Thr Pathogenic/Likely pathogenic ★★ same type
- CACNA1E p.Gly348Arg Pathogenic/Likely pathogenic ★★ same type
- CACNA1E p.Gly352Arg Pathogenic/Likely pathogenic ★★ same type
- CACNA1E p.Ile603Leu Pathogenic/Likely pathogenic ★★ ⚠ same type
- CACNA1E p.Ile701Val Pathogenic ★★ ⚠ same type
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/cacna1e-p-arg911pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown