CAMSAP1 p.Ser1450=
c.4350G>A · VCV3770754
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.557%, 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 -9.2 | GERP -3.4 |
| Overall | ||
| CADD | 0.075 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.557%
South Asian · 507/91,090 alleles
Filtering AF
0.517%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.501%
Overall
0.039%
630/1,613,784 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.557% | 180 |
| Remaining individualsnot grpmax-eligible | 0.0528% | 1,894 |
| Middle Eastern | 0.033% | 3,031 |
| Finnishnot grpmax-eligible | 0.0157% | 6,372 |
| European (non-Finnish) | 0.00661% | 15,127 |
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
- CAMSAP1
- Protein
- p.Ser1450=
- Coding
- c.4350G>A
- MANE Select
- NM_015447
- Type
- single nucleotide variant
- Location
- chr9:135815927 (GRCh38)
- Gene constraint
- LOEUF 0.544 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 55.21 · 4 PDB
- Residue 1450
- a UniProt-annotated variant site (in cdcbm12)
Similar variants
- CAMSAP1 p.Ser1398Ter Pathogenic/Likely pathogenic ★★ same type
- CAMSAP1 p.Leu29Met Uncertain significance ★★ ⚠ same type
- CAMSAP1 p.Ala914= Benign/Likely benign ★★ same type
- CAMSAP1 p.Arg116Gln Likely benign ★★ same type
- CAMSAP1 p.Asp556= Benign ★★ same type
- CAMSAP1 p.Gly1399= Benign/Likely benign ★★ same type
- CAMSAP1 p.Gly568= Likely benign ★★ same type
- CAMSAP1 p.Ser811= Benign ★★ 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/camsap1-p-ser1450 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown