CAMK2B p.Ala428=
c.1284C>T · rs373048588 · VCV1906208
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0106%, sas)
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 -5.4 | GERP -3.3 |
| Overall | ||
| CADD | 4.83 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0106%
South Asian · 8/75,642 alleles
Filtering AF
0.00524%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00377%
Overall
0.00255%
38/1,491,134 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0106% | 9,455 |
| Admixed American | 0.0051% | 19,601 |
| African / African-American | 0.00431% | 23,215 |
| Remaining individualsnot grpmax-eligible | 0.0035% | 28,586 |
| East Asian | 0.00258% | 38,738 |
| European (non-Finnish) | 0.00196% | 51,002 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CAMK2B
- Protein
- p.Ala428=
- Coding
- c.1284C>T
- MANE Select
- NM_001220
- dbSNP
- rs373048588
- Type
- single nucleotide variant
- Location
- chr7:44229443 (GRCh38)
- Gene constraint
- LOEUF 0.45 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 72.35 · 4 PDB
- Residue 428
- a UniProt-annotated variant site (in mrd54); the 'disordered' region
Similar variants
- CAMK2B c.903+2T>C Likely pathogenic ★★ same type
- CAMK2B p.Arg29Ter Pathogenic/Likely pathogenic ★★ same type
- CAMK2B p.Glu110Lys Pathogenic ★★ same type
- CAMK2B p.Glu237Lys Pathogenic ★★ same type
- CAMK2B p.Lys301Glu Pathogenic/Likely pathogenic ★★ same type
- CAMK2B p.Pro139Leu Pathogenic/Likely pathogenic ★★ same type
- CAMK2B c.1059+1G>A Uncertain significance ★★ same type
- CAMK2B c.1597+1G>A 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/camk2b-p-ala428 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown