CWC27 p.Arg220=
c.660A>G · rs2112178501 · VCV1525155
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.65 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.39 | gain · loss 0.03 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 9.3 | phastCons 1 |
| Overall | ||
| CADD | 20.9 | PHRED · no single calibrated threshold — expert panels disagree |
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
- CWC27
- Protein
- p.Arg220=
- Coding
- c.660A>G
- MANE Select
- NM_005869
- dbSNP
- rs2112178501
- Type
- single nucleotide variant
- Location
- chr5:64789011 (GRCh38)
- Gene constraint
- LOEUF 1.181 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.93 · 9 PDB
- Residue 220
- a UniProt-annotated variant site (in rpska); the 'disordered' region
Similar variants
- CWC27 p.Arg220Ter Likely pathogenic ★ same residue
- 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
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-arg220 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown