RAB33B p.Pro182=
c.546C>A · rs1305300298 · VCV1928020
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
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 0.41 | phastCons 0.99 |
| Overall | ||
| CADD | 9.48 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/60,012 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.000372%
6/1,614,126 alleles · very rare
exomes 6/1,461,876 · genomes 0/152,250 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00667% | 15,003 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,510 |
| European (non-Finnish) | 8.47e-05% | 1,180,018 |
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
- RAB33B
- Protein
- p.Pro182=
- Coding
- c.546C>A
- MANE Select
- NM_031296
- dbSNP
- rs1305300298
- Type
- single nucleotide variant
- Location
- chr4:139472982 (GRCh38)
- Gene constraint
- LOEUF 0.774 · pLI 0.39 (gnomAD)
- Structure
- AlphaFold pLDDT 81.55 · 2 PDB
Similar variants
- RAB33B p.Gln134Ter Pathogenic ★★ same type
- RAB33B c.*2355T>A Uncertain significance ★★ same type
- RAB33B p.Asn139Lys Uncertain significance ★★ ⚠ same type
- RAB33B p.Asn185Asp Uncertain significance ★★ ⚠ same type
- RAB33B p.Asn43Ser Uncertain significance ★★ ⚠ same type
- RAB33B p.Ile191Met Uncertain significance ★★ ⚠ same type
- RAB33B p.Ile33Leu Uncertain significance ★★ same type
- RAB33B p.Leu49Val 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/rab33b-p-pro182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown