WDR72 p.Ser760=
c.2280A>G · VCV3577399
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00668%, amr)
Conditions
1
amelogenesis imperfecta hypomaturation type 2A3
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 -2.1 | GERP -4 |
| Overall | ||
| CADD | 0.336 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00668%
Admixed American · 4/59,860 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.000248%
4/1,613,468 alleles · very rare
exomes 4/1,461,330 · genomes 0/152,138 · joint denominator
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
- WDR72
- Protein
- p.Ser760=
- Coding
- c.2280A>G
- MANE Select
- NM_182758
- Type
- single nucleotide variant
- Location
- chr15:53615926 (GRCh38)
- Gene constraint
- LOEUF 1.089 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.22
Similar variants
- WDR72 p.Arg30Ter Pathogenic/Likely pathogenic ★★ same condition
- WDR72 p.Arg896Ter Pathogenic/Likely pathogenic ★★ same condition
- WDR72 p.Lys333Ter Pathogenic ★★ same condition
- WDR72 p.Trp978Ter Pathogenic ★★ same condition
- WDR72 c.*3852T>G Uncertain significance ★★ same condition
- WDR72 p.Ala1094Thr Uncertain significance ★★ ⚠ same condition
- WDR72 p.Ala373Val Uncertain significance ★★ ⚠ same condition
- WDR72 p.Ala402Val Uncertain significance ★★ ⚠ same condition
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/wdr72-p-ser760 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown