COQ9 p.Val277=
c.831T>G · rs748849505 · VCV1904717
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0061%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>A here scores Δ0.60 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -2.3, phastCons 1 |
| Overall | ||
| CADD | 6.931 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0061%
European (non-Finnish) · 72/1,180,030 alleles
Filtering AF
0.00495%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00455%
Overall
0.00458%
74/1,614,064 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0061% | 16,389 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,243 |
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
- COQ9
- Protein
- p.Val277=
- Coding
- c.831T>G
- MANE Select
- NM_020312
- dbSNP
- rs748849505
- Type
- single nucleotide variant
- Location
- chr16:57459684 (GRCh38)
- Gene constraint
- LOEUF 1.035 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.16 · 5 PDB
- Residue 277
- an α-helix
Similar variants
- COQ9 p.Val277Phe Uncertain significance ★★ ⚠ same residue
- COQ9 c.522-1G>A Likely pathogenic ★★ same type
- COQ9 c.711+3G>C Pathogenic ★★ same type
- COQ9 p.Arg244Ter Pathogenic/Likely pathogenic ★★ same type
- COQ9 p.Arg29Ter Pathogenic/Likely pathogenic ★★ same type
- COQ9 c.242+5G>A Uncertain significance ★★ same type
- COQ9 p.Ala120Val Uncertain significance ★★ ⚠ same type
- COQ9 p.Ala122Thr 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/coq9-p-val277 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown