CAMSAP1 p.Asp556=
c.1668C>T · rs34237223 · VCV788650
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.44%, 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 -0.76 | GERP 0.32 |
| Overall | ||
| CADD | 0.803 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.44%
Admixed American · 2,664/60,020 alleles
Filtering AF
4.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.24%
Overall
0.493%
7,951/1,614,004 alleles · low-frequency
exomes 7,011/1,461,700 · genomes 940/152,304 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 4.44% | 23 |
| Finnishnot grpmax-eligible | 1.04% | 96 |
| Ashkenazi Jewishnot grpmax-eligible | 0.415% | 241 |
| Remaining individualsnot grpmax-eligible | 0.365% | 274 |
| European (non-Finnish) | 0.341% | 293 |
| South Asian | 0.148% | 675 |
| African / African-American | 0.143% | 701 |
| Middle Eastern | 0.0165% | 6,062 |
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.Asp556=
- Coding
- c.1668C>T
- MANE Select
- NM_015447
- dbSNP
- rs34237223
- Type
- single nucleotide variant
- Location
- chr9:135822993 (GRCh38)
- Gene constraint
- LOEUF 0.544 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 55.21 · 4 PDB
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.Gly1399= Benign/Likely benign ★★ same type
- CAMSAP1 p.Gly568= Likely benign ★★ same type
- CAMSAP1 p.Ser811= Benign ★★ same type
- CAMSAP1 p.Thr127Ile Benign/Likely 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-asp556 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown