CWC27 p.Pro176=
c.528A>T · rs1743893357 · VCV1915291
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00182%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.22 | acceptor loss, 32 bp away · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.43 | loss · gain 0.09 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | phastCons 1 |
| Overall | ||
| CADD | 8.849 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00182%
Admixed American · 1/55,018 alleles
Overall
6.96e-05%
1/1,437,294 alleles · very rare
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.Pro176=
- Coding
- c.528A>T
- MANE Select
- NM_005869
- dbSNP
- rs1743893357
- Type
- single nucleotide variant
- Location
- chr5:64786556 (GRCh38)
- Gene constraint
- LOEUF 1.181 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.93 · 9 PDB
- Residue 176
- a UniProt-annotated variant site (in rpska)
Similar variants
- CWC27 c.1152+2T>A Likely pathogenic ★★ same type
- CWC27 c.397-1G>A Likely pathogenic ★★ same type
- CWC27 c.938+2T>C Likely pathogenic ★★ same type
- CWC27 p.Arg143Ter Pathogenic/Likely pathogenic ★★ same type
- CWC27 p.Gln374Ter Pathogenic/Likely pathogenic ★★ same type
- CWC27 p.Glu165= Pathogenic ★★ same type
- CWC27 p.Tyr367Ter Pathogenic/Likely pathogenic ★★ same type
- CWC27 c.1042+5G>A 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-pro176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown