Is CELF4 p.Ala310= (c.930A>G) pathogenic?

CELF4 p.Ala310= (c.930A>G) is classified Likely benign in CELF4 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-05-01). Very rare (popmax 0.00133%, afr); Associated with CELF4-related disorder.

What condition is associated with CELF4 p.Ala310= (c.930A>G)?

CELF4 p.Ala310= (c.930A>G) is associated with CELF4-related disorder (ClinVar).

How common is CELF4 p.Ala310= (c.930A>G) in the general population?

CELF4 p.Ala310= (c.930A>G) is very rare (popmax 0.00133%, afr) (gnomAD).

CELF4 p.Ala310=

c.930A>G · rs1368349813 · VCV3038143

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00133%, afr)

Conditions

CELF4-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.026	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.14	GERP -0.64, phastCons 0.76
Overall
CADD	10.2	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/75,010 alleles

Filtering AF 0.000292% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000211%

Overall 0.000559% 9/1,611,198 alleles · very rare exomes 9/1,458,860 · genomes 0/152,338 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00133%	75,010
European (non-Finnish)	0.000678%	147,427

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: CELF4
Protein: p.Ala310=
Coding: c.930A>G
MANE Select: NM_020180
dbSNP: rs1368349813
Type: single nucleotide variant
Location: chr18:37273035 (GRCh38)
Gene constraint: LOEUF 0.546 · pLI 0.84 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 62.70 · 2 PDB

Full CELF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CELF4-related disorder

Similar variants

CELF4 c.801+1G>C Uncertain significance ★ same condition
CELF4 p.Gln414His Uncertain significance ⚠ same condition
CELF4 c.801+7G>A Benign same condition
CELF4 p.Ala328= Benign same condition
CELF4 p.Asp69= Likely benign same condition
CELF4 p.Leu109= Likely benign same condition
CELF4 p.Phe358= Likely benign same condition
CELF4 p.Val279= Likely benign 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/celf4-p-ala310 (accessed [today's date]).

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