CUL4B p.Pro96=
c.288G>A · rs984425669 · VCV1336165
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00527%, afr)
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 | GERP -2.5 |
| Overall | ||
| CADD | 7.732 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00527%
African / African-American · 3/56,892 alleles
Filtering AF
0.0014%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000688%
Overall
0.000332%
4/1,205,681 alleles · very rare
exomes 2/1,094,021 · genomes 2/111,660 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00527% | 18,964 |
| European (non-Finnish) | 0.000112% | 892,618 |
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
- CUL4B
- Protein
- p.Pro96=
- Coding
- c.288G>A
- MANE Select
- NM_001079872
- dbSNP
- rs984425669
- Type
- single nucleotide variant
- Location
- chrX:120560351 (GRCh38)
- Structure
- AlphaFold pLDDT 80.02 · 5 PDB
- Residue 96
- the 'disordered' region
Similar variants
- CUL4B p.Arg351Ter Likely pathogenic ★★ same type
- CUL4B p.Arg370Ter Pathogenic ★★ same type
- CUL4B p.Gln241Ter Pathogenic ★★ same type
- CUL4B p.Thr813= Pathogenic/Likely pathogenic ★★ same type
- CUL4B c.2592+3A>T Uncertain significance ★★ same type
- CUL4B c.777-3C>T Uncertain significance ★★ same type
- CUL4B p.Ala16Pro Uncertain significance ★★ ⚠ same type
- CUL4B p.Cys712Arg 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/cul4b-p-pro96 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown