CWC22 p.Gln365=
c.1095A>G · rs192184441 · VCV720150
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.38%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -2.8 |
| Overall | ||
| CADD | 4.002 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.38%
African / African-American · 1,034/75,032 alleles
Filtering AF
1.31%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.28%
Overall
0.0809%
1,306/1,613,748 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.38% | 73 |
| Remaining individualsnot grpmax-eligible | 0.101% | 992 |
| Admixed American | 0.0733% | 1,364 |
| East Asian | 0.0223% | 4,485 |
| Middle Eastern | 0.0165% | 6,060 |
| South Asian | 0.0154% | 6,506 |
| European (non-Finnish) | 0.0119% | 8,427 |
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
- CWC22
- Protein
- p.Gln365=
- Coding
- c.1095A>G
- MANE Select
- NM_020943
- dbSNP
- rs192184441
- Type
- single nucleotide variant
- Location
- chr2:179970702 (GRCh38)
- Gene constraint
- LOEUF 0.875 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.00 · 29 PDB
Similar variants
- CWC22 p.Asp741Val Benign ★★ same type
- CWC22 p.Ala419Thr Uncertain significance ★ ⚠ same type
- CWC22 p.Ala674Ser Uncertain significance ★ ⚠ same type
- CWC22 p.Arg128Pro Uncertain significance ★ ⚠ same type
- CWC22 p.Arg156Lys Uncertain significance ★ ⚠ same type
- CWC22 p.Arg17Thr Uncertain significance ★ ⚠ same type
- CWC22 p.Arg236Thr Uncertain significance ★ ⚠ same type
- CWC22 p.Arg246Gln 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/cwc22-p-gln365 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown