Is COX14 p.Val34= (c.102C>G) pathogenic?

COX14 p.Val34= (c.102C>G) is classified Likely benign in COX14 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-17). Very rare (popmax 6.2e-05%).

How common is COX14 p.Val34= (c.102C>G) in the general population?

COX14 p.Val34= (c.102C>G) is very rare (popmax 6.2e-05%) (gnomAD).

COX14 p.Val34=

c.102C>G · VCV3686138

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 6.2e-05%)

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 1.3	GERP -1.4, phastCons 1
Overall
CADD	9.736	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.2e-05%

Overall 6.2e-05% 1/1,614,116 alleles · very rare exomes 1/1,461,814 · genomes 0/152,302 · joint denominator

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: COX14
Protein: p.Val34=
Coding: c.102C>G
MANE Select: NM_032901
Type: single nucleotide variant
Location: chr12:50120145 (GRCh38)
Gene constraint: LOEUF 1.203 · pLI 0.22 (gnomAD)
Structure: AlphaFold pLDDT 86.03

Full COX14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

COX14 p.Arg41Cys Uncertain significance ★★ ⚠ same type
COX14 p.Met1Ile Uncertain significance ★★ same type
COX14 p.Ser54Pro Uncertain significance ★★ ⚠ same type
COX14 p.Thr3Ala Uncertain significance ★★ ⚠ same type
COX14 p.Tyr25Cys Uncertain significance ★★ ⚠ same type
COX14 c.-8-132C>T Benign ★★ same type
COX14 c.-8-14A>G Likely benign ★★ same type
COX14 c.-8-1526G>A 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/cox14-p-val34 (accessed [today's date]).

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