CAMK2G p.Pro419=
c.1257G>A · VCV4534516
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00478%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.095 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 14.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00478%
South Asian · 4/83,698 alleles
Filtering AF
0.00162%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000952%
Overall
0.000909%
14/1,539,564 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00478% | 20,924 |
| Admixed American | 0.00393% | 25,422 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00351% | 28,470 |
| Remaining individualsnot grpmax-eligible | 0.00167% | 59,774 |
| European (non-Finnish) | 0.000524% | 190,773 |
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
- CAMK2G
- Protein
- p.Pro419=
- Coding
- c.1257G>A
- MANE Select
- NM_001367534
- Type
- single nucleotide variant
- Location
- chr10:73819638 (GRCh38)
- Gene constraint
- LOEUF 0.404 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.50 · 2 PDB
- Residue 419
- a modified residue (phosphoserine); the 'disordered' region
Similar variants
- CAMK2G p.Pro419Leu Uncertain significance ★ same residue
- CAMK2G p.Arg292Pro Pathogenic/Likely pathogenic ★★ same type
- CAMK2G p.Arg553Trp Uncertain significance ★★ ⚠ same type
- CAMK2G p.Asn394Ser Uncertain significance ★★ ⚠ same type
- CAMK2G p.Ile261Thr Uncertain significance ★★ ⚠ same type
- CAMK2G p.Thr383Met Uncertain significance ★★ ⚠ same type
- CAMK2G p.Thr523Ser Uncertain significance ★★ ⚠ same type
- CAMK2G p.Val89Met 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/camk2g-p-pro419 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown