CPAP p.Glu648Asp
c.1944G>C · VCV3490373
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.0762 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/3 damaging
AlphaMissense, REVEL, SaProt
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.0762 | likely benign |
|---|---|---|
| REVEL | 0.011 | strongly benign-leaning |
| SaProt | LLR -6.81 | tolerated |
| ⇒ AlphaMissense, REVEL and SaProt all call this tolerated. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.014 | GERP -3.4 |
| Regional constraint | o/e 0.96 | unconstrained · MANE · 30 kb · p 0.11 · regional, not allelic |
| Overall | ||
| CADD | 0.119 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CPAP
- Protein
- p.Glu648Asp
- Coding
- c.1944G>C
- MANE Select
- NM_018451
- Type
- single nucleotide variant
- Location
- chr13:24906094 (GRCh38)
- Structure
- AlphaFold pLDDT 56.70 · 6 PDB
- Residue 648
- the 'disordered' region
Similar variants
- CPAP p.Ala137Ser Uncertain significance ★★ ⚠ same condition
- CPAP p.Arg535Trp Uncertain significance ★★ ⚠ same condition
- CPAP p.Arg692His Uncertain significance ★★ ⚠ same condition
- CPAP p.Arg723Gly Uncertain significance ★★ ⚠ same condition
- CPAP p.Asn1175Ser Uncertain significance ★★ ⚠ same condition
- CPAP p.Asp730His Uncertain significance ★★ ⚠ same condition
- CPAP p.Asp743Gly Uncertain significance ★★ ⚠ same condition
- CPAP p.Asp762Glu Uncertain significance ★★ ⚠ same condition
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-glu648asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown