CACNA1B p.Pro910=
c.2730A>G · rs1432202628 · VCV1903779
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,166,948)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.41 | |
| Overall | ||
| CADD | 5.209 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,166,948). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CACNA1B
- Protein
- p.Pro910=
- Coding
- c.2730A>G
- MANE Select
- NM_000718
- dbSNP
- rs1432202628
- Type
- single nucleotide variant
- Location
- chr9:138023473 (GRCh38)
- Gene constraint
- LOEUF 0.425 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 60.66 · 7 PDB
- Residue 910
- a UniProt-annotated variant site (in nedneh); the 'disordered' region
Similar variants
- CACNA1B p.Arg2102Ter Pathogenic/Likely pathogenic ★★ same type
- CACNA1B p.Ala1161Thr Uncertain significance ★★ ⚠ same type
- CACNA1B p.Ala1556Val Uncertain significance ★★ ⚠ same type
- CACNA1B p.Ala1999Val Uncertain significance ★★ same type
- CACNA1B p.Ala2080Thr Uncertain significance ★★ ⚠ same type
- CACNA1B p.Ala2214Thr Uncertain significance ★★ ⚠ same type
- CACNA1B p.Ala2237Thr Uncertain significance ★★ ⚠ same type
- CACNA1B p.Ala2249Thr Uncertain significance ★★ ⚠ 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/cacna1b-p-pro910 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown