CWC27 p.Ile6fs
c.17_20del · rs2112128704 · VCV1441533
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 1 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 5.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- CWC27
- Protein
- p.Ile6fs
- Coding
- c.17_20del
- MANE Select
- NM_005869
- dbSNP
- rs2112128704
- Type
- Deletion
- Location
- chr5:64769161 (GRCh38)
- Gene constraint
- LOEUF 1.181 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.93 · 9 PDB
Similar variants
- CWC27 p.Ile6Val Uncertain significance ★★ ⚠ same residue
- CWC27 c.249_252+22del Likely pathogenic ★★ same type
- CWC27 p.Ala356fs Pathogenic ★★ same type
- CWC27 p.Asn109fs Pathogenic/Likely pathogenic ★★ same type
- CWC27 p.Gly253fs Pathogenic/Likely pathogenic ★★ same type
- CWC27 p.Lys334_Val335insTer Pathogenic/Likely pathogenic ★★ same type
- CWC27 p.Ser222fs Pathogenic ★★ same type
- CWC27 p.Glu470fs 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/cwc27-p-ile6fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown