CAMKK2 p.Pro455=
c.1365G>A · VCV3827032
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0111%, eas)
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 -8.7 | GERP -3.5 |
| Overall | ||
| CADD | 3.827 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0111%
East Asian · 5/44,884 alleles
Filtering AF
0.00434%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00276%
Overall
0.00212%
31/1,461,836 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0111% | 8,977 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,836 |
| Admixed American | 0.00333% | 30,014 |
| European (non-Finnish) | 0.00178% | 56,191 |
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
- CAMKK2
- Protein
- p.Pro455=
- Coding
- c.1365G>A
- MANE Select
- NM_001270485
- Type
- single nucleotide variant
- Location
- chr12:121248693 (GRCh38)
- Gene constraint
- LOEUF 0.649 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.93 · 24 PDB
- Residue 455
- an α-helix
Similar variants
- CAMKK2 c.1235+3G>A Benign ★★ same type
- CAMKK2 p.Asn118= Benign ★★ same type
- CAMKK2 p.Gly22= Benign ★★ same type
- CAMKK2 p.His150= Benign ★★ same type
- CAMKK2 p.Ile297= Benign ★★ same type
- CAMKK2 p.Pro351= Benign ★★ same type
- CAMKK2 p.Ser133= Benign ★★ same type
- CAMKK2 p.Ala15Val 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/camkk2-p-pro455 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown