COX14 p.Gln6Pro
c.17A>C · VCV4655950
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.2888 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
AlphaMissense, SaProt · REVEL no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.2888 | likely benign |
|---|---|---|
| REVEL | 0.439 | indeterminate |
| SaProt | LLR -10.52 | damaging |
| ⇒ SaProt calls this damaging; AlphaMissense does not; REVEL makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 9.3 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 1.00 | unconstrained · MANE · 170 bp · p 0.99 · regional, not allelic |
| Overall | ||
| CADD | 24.9 | 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
- COX14
- Protein
- p.Gln6Pro
- Coding
- c.17A>C
- MANE Select
- NM_032901
- Type
- single nucleotide variant
- Location
- chr12:50120060 (GRCh38)
- Gene constraint
- LOEUF 1.203 · pLI 0.22 (gnomAD)
- Structure
- AlphaFold pLDDT 86.03
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-gln6pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown