WDR81 p.Pro47=
c.141G>C · rs1597284584 · VCV745903
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.87e-05%, nfe)
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 -0.32 | GERP -4.8 |
| Overall | ||
| CADD | 4.304 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.87e-05%
European (non-Finnish) · 1/1,127,416 alleles
Overall
6.65e-05%
1/1,504,340 alleles · very rare
exomes 1/1,351,988 · genomes 0/152,352 · 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
- WDR81
- Protein
- p.Pro47=
- Coding
- c.141G>C
- MANE Select
- NM_001163809
- dbSNP
- rs1597284584
- Type
- single nucleotide variant
- Location
- chr17:1725100 (GRCh38)
- Gene constraint
- LOEUF 0.817 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.23
- Residue 47
- the 'necessary and sufficient for the interaction with sqstm1' region
Similar variants
- WDR81 p.Arg1333Ter Pathogenic/Likely pathogenic ★★ same type
- WDR81 p.Arg1779Ter Pathogenic ★★ same type
- WDR81 p.Arg397Ter Likely pathogenic ★★ same type
- WDR81 p.Gln1096Ter Pathogenic ★★ same type
- WDR81 p.Pro856Leu Pathogenic/Likely pathogenic ★★ ⚠ same type
- WDR81 p.Tyr1257Ter Pathogenic/Likely pathogenic ★★ same type
- WDR81 p.Tyr1281Ter Pathogenic/Likely pathogenic ★★ same type
- WDR81 p.Ala1015Thr 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/wdr81-p-pro47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown