CPAP p.Lys44fs
c.129_130del · rs886041674 · VCV280477
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP 1.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CPAP
- Protein
- p.Lys44fs
- Coding
- c.129_130del
- MANE Select
- NM_018451
- dbSNP
- rs886041674
- Type
- Microsatellite
- Location
- chr13:24912896 (GRCh38)
- Structure
- AlphaFold pLDDT 56.70 · 6 PDB
Similar variants
- CPAP p.Lys44Ter Pathogenic same residue
- 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 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-lys44fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown