CPAP p.Pro861del
c.2578CCT[1] · rs756125218 · VCV1449681
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.9 | GERP -3.3 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Filtering AF
0.000442%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.000753%
11/1,461,782 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,062 |
| African / African-American | 0.00266% | 37,527 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,506 |
| South Asian | 0.0011% | 91,082 |
| European (non-Finnish) | 0.000508% | 196,659 |
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
- CPAP
- Protein
- p.Pro861del
- Coding
- c.2578CCT[1]
- MANE Select
- NM_018451
- dbSNP
- rs756125218
- Type
- Microsatellite
- Location
- chr13:24905455 (GRCh38)
- Structure
- AlphaFold pLDDT 56.70 · 6 PDB
- Residue 861
- the 'disordered' region
Similar variants
- CPAP p.Asp705_Ser706insTer Pathogenic ★★ same type
- CPAP c.3704-14_3704-12del Benign ★★ same type
- CPAP p.Arg723fs Likely pathogenic ★ same type
- CPAP p.Cys735_Asp736delinsTer Likely pathogenic ★ same type
- CPAP p.Gln89fs Likely pathogenic ★ same type
- CPAP p.Glu1034fs Pathogenic ★ same type
- CPAP p.Lys44fs Pathogenic ★ same type
- CPAP c.1078-6_1078-2del 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/cpap-p-pro861del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown