CAMSAP3 p.Pro381=
c.1143G>A · rs114173574 · VCV788013
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.02%, afr)
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 -2.8 | GERP -2.8 |
| Overall | ||
| CADD | 1.226 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.02%
African / African-American · 2,266/74,968 alleles
Filtering AF
2.92%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.88%
Overall
0.163%
2,628/1,612,404 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.02% | 33 |
| Admixed American | 0.238% | 419 |
| Remaining individualsnot grpmax-eligible | 0.208% | 480 |
| Middle Eastern | 0.132% | 757 |
| South Asian | 0.0308% | 3,250 |
| Finnishnot grpmax-eligible | 0.0207% | 4,838 |
| East Asian | 0.00446% | 22,421 |
| European (non-Finnish) | 0.00322% | 31,045 |
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
- CAMSAP3
- Protein
- p.Pro381=
- Coding
- c.1143G>A
- MANE Select
- NM_020902
- dbSNP
- rs114173574
- Type
- single nucleotide variant
- Location
- chr19:7611536 (GRCh38)
- Gene constraint
- LOEUF 0.51 · pLI 0.88 (gnomAD)
- Structure
- AlphaFold pLDDT 60.70
- Residue 381
- the 'disordered' region
Similar variants
- CAMSAP3 p.Pro381Leu Uncertain significance ★ ⚠ same residue
- CAMSAP3 p.Ala239= Benign ★★ same type
- CAMSAP3 p.Arg931Gln Benign ★★ same type
- CAMSAP3 p.Tyr294= Benign ★★ same type
- CAMSAP3 c.622-299A>G Uncertain significance ★ same type
- CAMSAP3 p.Ala1002Val Uncertain significance ★ ⚠ same type
- CAMSAP3 p.Ala1098Val Uncertain significance ★ ⚠ same type
- CAMSAP3 p.Ala1118Thr 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/camsap3-p-pro381 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown