WNT3A p.Pro21=
c.63G>A · rs564795189 · VCV2167022
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00679%, eas)
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 1.2 | GERP -1.5, phastCons 1 |
| Overall | ||
| CADD | 13.56 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00679%
East Asian · 3/44,154 alleles
Filtering AF
0.0018%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000975%
Overall
0.0015%
24/1,602,962 alleles · very rare
exomes 20/1,450,832 · genomes 4/152,130 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00679% | 14,718 |
| European (non-Finnish) | 0.00179% | 55,946 |
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
- WNT3A
- Protein
- p.Pro21=
- Coding
- c.63G>A
- MANE Select
- NM_033131
- dbSNP
- rs564795189
- Type
- single nucleotide variant
- Location
- chr1:228007191 (GRCh38)
- Gene constraint
- LOEUF 0.76 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.62 · 4 PDB
Similar variants
- WNT3A p.Pro21Leu Uncertain significance ★ ⚠ same residue
- WNT3A p.Ala318Pro Uncertain significance ★★ ⚠ same type
- WNT3A p.Arg141His Uncertain significance ★★ ⚠ same type
- WNT3A p.Arg141Pro Uncertain significance ★★ ⚠ same type
- WNT3A p.Arg322Gln Uncertain significance ★★ ⚠ same type
- WNT3A p.Arg324Trp Uncertain significance ★★ ⚠ same type
- WNT3A p.Arg82His Uncertain significance ★★ ⚠ same type
- WNT3A p.Glu160Lys 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/wnt3a-p-pro21 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown