Is CAMK1 p.Pro345= (c.1035G>A) pathogenic?

CAMK1 p.Pro345= (c.1035G>A) is classified Likely benign in CAMK1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-06). Very rare (popmax 0.004%, afr).

How common is CAMK1 p.Pro345= (c.1035G>A) in the general population?

CAMK1 p.Pro345= (c.1035G>A) is very rare (popmax 0.004%, afr) (gnomAD).

CAMK1 p.Pro345=

c.1035G>A · VCV3994870

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.004%, 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 -5.1	GERP -3.4
Overall
CADD	0.24	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.004% African / African-American · 3/74,924 alleles

Filtering AF 0.00106% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000495%

Overall 0.000682% 11/1,614,054 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.004%	24,975
Admixed American	0.00333%	30,001
Remaining individualsnot grpmax-eligible	0.0016%	62,488
South Asian	0.0011%	91,094
European (non-Finnish)	0.000339%	295,009

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: CAMK1
Protein: p.Pro345=
Coding: c.1035G>A
MANE Select: NM_003656
Type: single nucleotide variant
Location: chr3:9757617 (GRCh38)
Gene constraint: LOEUF 0.973 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.87 · 4 PDB

Full CAMK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CAMK1 p.Pro345Ala Uncertain significance ★ ⚠ same residue
CAMK1 p.Pro345Leu Uncertain significance ★ ⚠ same residue
CAMK1 p.Ser32Leu Uncertain significance ★★ ⚠ same type
CAMK1 p.Ala186Val Uncertain significance ★ ⚠ same type
CAMK1 p.Ala342Ser Uncertain significance ★ ⚠ same type
CAMK1 p.Ala47Thr Uncertain significance ★ ⚠ same type
CAMK1 p.Arg116Gln Uncertain significance ★ ⚠ same type
CAMK1 p.Arg116Trp 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/camk1-p-pro345 (accessed [today's date]).

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