CRBN p.Pro93=
c.279C>A · rs773279779 · VCV1695057
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00153%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.291 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -3.3 | GERP -4.8 |
| Overall | ||
| CADD | 0.552 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00153%
European (non-Finnish) · 18/1,179,976 alleles
Filtering AF
0.000953%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000787%
Overall
0.00123%
18/1,461,826 alleles · very rare
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
- CRBN
- Protein
- p.Pro93=
- Coding
- c.279C>A
- MANE Select
- NM_016302
- dbSNP
- rs773279779
- Type
- single nucleotide variant
- Location
- chr3:3174157 (GRCh38)
- Gene constraint
- LOEUF 1.147 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.87 · 104 PDB
- Residue 93
- the lon n-terminal domain
Similar variants
- CRBN p.Arg145Ter Pathogenic ★★ same type
- CRBN p.Cys391Arg Likely pathogenic ★★ same type
- CRBN p.Ser214Ter Likely pathogenic ★★ same type
- CRBN p.Arg373Trp Uncertain significance ★★ ⚠ same type
- CRBN p.Asp313His Uncertain significance ★★ ⚠ same type
- CRBN p.Gln7Arg Uncertain significance ★★ ⚠ same type
- CRBN p.Glu32Lys Uncertain significance ★★ ⚠ same type
- CRBN p.Met14Leu 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/crbn-p-pro93 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown