CPAP p.Asp315del
c.940GAT[1] · rs759204348 · VCV1520341
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0067%, eas)
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 4.6 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 7.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0067%
East Asian · 3/44,756 alleles
Filtering AF
0.00178%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000893%
Overall
0.000496%
8/1,612,506 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0067% | 14,919 |
| Admixed American | 0.00333% | 29,996 |
| African / African-American | 0.00267% | 37,441 |
| Finnishnot grpmax-eligible | 0.00157% | 63,622 |
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.Asp315del
- Coding
- c.940GAT[1]
- MANE Select
- NM_018451
- dbSNP
- rs759204348
- Type
- Microsatellite
- Location
- chr13:24908047 (GRCh38)
- Structure
- AlphaFold pLDDT 56.70 · 6 PDB
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-asp315del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown