Is COX14 p.Glu49= (c.147A>G) pathogenic?

COX14 p.Glu49= (c.147A>G) is classified Likely benign in COX14 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-29). Absent from gnomAD v4.1.

How common is COX14 p.Glu49= (c.147A>G) in the general population?

COX14 p.Glu49= (c.147A>G) is absent from gnomAD v4.1 (gnomAD).

COX14 p.Glu49=

c.147A>G · rs1951118478 · VCV2129857

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 4.7	GERP 0.64, phastCons 1
Overall
CADD	9.088	PHRED · no single calibrated threshold — expert panels disagree

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: COX14
Protein: p.Glu49=
Coding: c.147A>G
MANE Select: NM_032901
dbSNP: rs1951118478
Type: single nucleotide variant
Location: chr12:50120190 (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.Glu49Asp Uncertain significance ★ ⚠ same residue
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

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-glu49 (accessed [today's date]).

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