Is CUL4B p.Ile306= (c.918T>C) pathogenic?

CUL4B p.Ile306= (c.918T>C) is classified Uncertain significance in CUL4B (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-22). No allele count reported in gnomAD v4.1 (AN 1,167,462); Associated with X-linked intellectual disability, Cabezas type.

What condition is associated with CUL4B p.Ile306= (c.918T>C)?

CUL4B p.Ile306= (c.918T>C) is associated with X-linked intellectual disability, Cabezas type (ClinVar).

How common is CUL4B p.Ile306= (c.918T>C) in the general population?

CUL4B p.Ile306= (c.918T>C) is no allele count reported in gnomAD v4.1 (AN 1,167,462) (gnomAD).

CUL4B p.Ile306=

c.918T>C · VCV3901931

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,167,462)

Conditions

X-linked intellectual disability, Cabezas type

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 5.3	GERP 0.23, phastCons 1
Overall
CADD	14.19	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,167,462). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CUL4B
Protein: p.Ile306=
Coding: c.918T>C
MANE Select: NM_001079872
Type: single nucleotide variant
Location: chrX:120545446 (GRCh38)
Structure: AlphaFold pLDDT 80.02 · 5 PDB
Residue 306: an α-helix

Full CUL4B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

X-linked intellectual disability, Cabezas type — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CUL4B p.Ile306Val Uncertain significance ★ ⚠ same residue
CUL4B p.Ile306Leu Uncertain significance ★ same residue
CUL4B p.Arg351Ter Likely pathogenic ★★ same condition
CUL4B p.Arg370Ter Pathogenic ★★ same condition
CUL4B p.Gln241Ter Pathogenic ★★ same condition
CUL4B p.Thr813= Pathogenic/Likely pathogenic ★★ same condition
CUL4B c.2592+3A>T Uncertain significance ★★ same condition
CUL4B c.777-3C>T 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/cul4b-p-ile306 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown