CAMTA1 p.Pro737=
c.2211G>A · rs779262991 · VCV734699
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0217%, amr)
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 -6.2 | GERP -5.1 |
| Overall | ||
| CADD | 0.524 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0217%
Admixed American · 13/59,866 alleles
Filtering AF
0.0128%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0101%
Overall
0.00292%
47/1,608,712 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0217% | 4,605 |
| East Asian | 0.0156% | 6,394 |
| Remaining individualsnot grpmax-eligible | 0.00643% | 15,548 |
| South Asian | 0.00551% | 18,165 |
| Finnishnot grpmax-eligible | 0.00159% | 63,026 |
| European (non-Finnish) | 0.00136% | 73,545 |
| African / African-American | 0.00134% | 74,860 |
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
- CAMTA1
- Protein
- p.Pro737=
- Coding
- c.2211G>A
- MANE Select
- NM_015215
- dbSNP
- rs779262991
- Type
- single nucleotide variant
- Location
- chr1:7664758 (GRCh38)
- Gene constraint
- LOEUF 0.227 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 51.94 · 1 PDB
Similar variants
- CAMTA1 p.Pro737Leu Uncertain significance ★★ ⚠ same residue
- CAMTA1 c.3342+1G>T Likely pathogenic ★★ same type
- CAMTA1 c.4183-1G>A Likely pathogenic ★★ same type
- CAMTA1 p.Arg1048Ter Pathogenic ★★ same type
- CAMTA1 p.Arg1411Ter Pathogenic/Likely pathogenic ★★ same type
- CAMTA1 p.Arg1582Ter Pathogenic/Likely pathogenic ★★ same type
- CAMTA1 p.Arg1594Ter Pathogenic/Likely pathogenic ★★ same type
- CAMTA1 p.Arg1641Ter Pathogenic/Likely 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/camta1-p-pro737 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown