Is CAMP p.Ile29Ser (c.86T>G) pathogenic?

CAMP p.Ile29Ser (c.86T>G) is classified Uncertain significance in CAMP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-11-20). AlphaMissense: likely benign (0.0732); Absent from gnomAD v4.1.

How common is CAMP p.Ile29Ser (c.86T>G) in the general population?

CAMP p.Ile29Ser (c.86T>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CAMP p.Ile29Ser (c.86T>G)?

AlphaMissense predicts likely benign (score 0.0732) — an in-silico prediction, not a clinical call.

CAMP p.Ile29Ser

c.86T>G · VCV3484514

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0732 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0732	likely benign
REVEL	0.021	moderately benign-leaning
SaProt	LLR -0.74	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Pangolin	Δ0.50	gain · loss 0.00 · not in the SpliceAI release · independent
Constraint at this position
Conservation	phyloP -1.5	GERP -1.6
Regional constraint	o/e 0.96	unconstrained · MANE · 1,909 bp · p 0.58 · regional, not allelic
Overall
CADD	0.444	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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: CAMP
Protein: p.Ile29Ser
Coding: c.86T>G
MANE Select: NM_004345
Type: single nucleotide variant
Location: chr3:48223597 (GRCh38)
Gene constraint: LOEUF 1.204 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.74 · 20 PDB

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

Similar variants

CAMP p.Gly69Trp Uncertain significance ★ ⚠ same type
CAMP p.Leu40Pro Uncertain significance ★ ⚠ same type
CAMP p.Pro63Leu Uncertain significance ★ ⚠ same type
CAMP p.Leu104= Likely benign ★ same type
CAMP p.Lys145Arg Benign ★ same type
CAMP p.Pro94= Benign ★ 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/camp-p-ile29ser (accessed [today's date]).

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