CAMK2B p.Pro437=
c.1311G>A · rs575970166 · VCV1674127
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.301%, 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 -7.1 | GERP -3.2 |
| Overall | ||
| CADD | 4.028 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.301%
South Asian · 240/79,738 alleles
Filtering AF
0.27%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.258%
Overall
0.0209%
317/1,516,744 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.301% | 332 |
| Finnishnot grpmax-eligible | 0.0814% | 1,229 |
| Middle Eastern | 0.0344% | 2,905 |
| Remaining individualsnot grpmax-eligible | 0.0222% | 4,499 |
| Admixed American | 0.00676% | 14,796 |
| East Asian | 0.00257% | 38,968 |
| European (non-Finnish) | 0.000971% | 102,997 |
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.Pro437=
- Coding
- c.1311G>A
- MANE Select
- NM_001220
- dbSNP
- rs575970166
- Type
- single nucleotide variant
- Location
- chr7:44229416 (GRCh38)
- Gene constraint
- LOEUF 0.45 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 72.35 · 4 PDB
- Residue 437
- a UniProt-annotated variant site (in mrd54); the 'disordered' region
Similar variants
- CAMK2B p.Pro437Arg Uncertain significance ★ ⚠ same residue
- CAMK2B p.Pro437Ser Uncertain significance ★ ⚠ same residue
- CAMK2B p.Pro437Leu Benign ★ ⚠ same residue
- CAMK2B p.Pro437fs Uncertain significance ★★ same residue
- 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
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-pro437 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown