Is CELF5 p.Pro484Arg (c.1451C>G) pathogenic?

CELF5 p.Pro484Arg (c.1451C>G) is classified Uncertain significance in CELF5 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-05). AlphaMissense: ambiguous (0.3676); Absent from gnomAD v4.1.

How common is CELF5 p.Pro484Arg (c.1451C>G) in the general population?

CELF5 p.Pro484Arg (c.1451C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CELF5 p.Pro484Arg (c.1451C>G)?

AlphaMissense predicts ambiguous (score 0.3676) — an in-silico prediction, not a clinical call.

CELF5 p.Pro484Arg

c.1451C>G · rs865957358 · VCV3141951

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3676 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
AlphaMissense	0.3676	ambiguous
REVEL	0.432	indeterminate
SaProt	LLR -11.12	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.5	GERP 1.9, phastCons 1
Regional constraint	o/e 0.46	unconstrained · MANE · 7,433 bp · p 7.7e-10 · regional, not allelic
Overall
CADD	25.7	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CELF5
Protein: p.Pro484Arg
Coding: c.1451C>G
MANE Select: NM_021938
dbSNP: rs865957358
Type: single nucleotide variant
Location: chr19:3293439 (GRCh38)
Gene constraint: LOEUF 0.248 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.74 · 1 PDB

Full CELF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CELF5 p.Gln364Pro Uncertain significance ★★ ⚠ same type
CELF5 p.Ala309Thr Uncertain significance ★ ⚠ same type
CELF5 p.Ala373Val Uncertain significance ★ ⚠ same type
CELF5 p.Arg117Trp Uncertain significance ★ ⚠ same type
CELF5 p.Arg129His Uncertain significance ★ ⚠ same type
CELF5 p.Arg218Leu Uncertain significance ★ ⚠ same type
CELF5 p.Gln12Arg Uncertain significance ★ ⚠ same type
CELF5 p.Gln13Leu 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/celf5-p-pro484arg (accessed [today's date]).

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