COX11 p.Ala187=
c.561T>C · VCV4820937
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.352%, mid)
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 0.71 | GERP -0.35, phastCons 0.95 |
| Overall | ||
| CADD | 8.42 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.352%
Middle Eastern · 20/5,676 alleles
Filtering AF
0.233%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.195%
Overall
0.0115%
185/1,612,356 alleles · rare
exomes 166/1,460,172 · genomes 19/152,184 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.352% | 284 |
| Admixed American | 0.0484% | 2,066 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,466 |
| African / African-American | 0.02% | 5,000 |
| South Asian | 0.0088% | 11,359 |
| European (non-Finnish) | 0.00806% | 12,413 |
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
- COX11
- Protein
- p.Ala187=
- Coding
- c.561T>C
- MANE Select
- NM_004375
- Type
- single nucleotide variant
- Location
- chr17:54963393 (GRCh38)
- Gene constraint
- LOEUF 0.79 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 74.29
Similar variants
- COX11 p.Ala109Val Uncertain significance ★ ⚠ same type
- COX11 p.Ala132Val Uncertain significance ★ ⚠ same type
- COX11 p.Ala67Val Uncertain significance ★ ⚠ same type
- COX11 p.Arg148Gln Uncertain significance ★ ⚠ same type
- COX11 p.Arg64Trp Uncertain significance ★ ⚠ same type
- COX11 p.Asp253Val Uncertain significance ★ ⚠ same type
- COX11 p.Cys11Tyr Uncertain significance ★ ⚠ same type
- COX11 p.Cys121Tyr 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/cox11-p-ala187 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown