COX10 p.Val287=
c.861C>T · VCV4684191
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0022%, sas)
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 -4.4 | GERP -2 |
| Overall | ||
| CADD | 5.315 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0022%
South Asian · 2/91,082 alleles
Filtering AF
0.000365%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000211%
Overall
0.000743%
12/1,614,102 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0022% | 45,541 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
| African / African-American | 0.00133% | 74,944 |
| European (non-Finnish) | 0.000678% | 147,506 |
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
- COX10
- Protein
- p.Val287=
- Coding
- c.861C>T
- MANE Select
- NM_001303
- Type
- single nucleotide variant
- Location
- chr17:14192154 (GRCh38)
- Gene constraint
- LOEUF 0.934 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 77.11
Similar variants
- COX10 p.Asp336Val Pathogenic/Likely pathogenic ★★ same type
- COX10 p.Gln230Ter Likely pathogenic ★★ same type
- COX10 p.Pro225Leu Likely pathogenic ★★ same type
- COX10 c.-89G>C Uncertain significance ★★ same type
- COX10 c.-89G>T Uncertain significance ★★ same type
- COX10 p.Ala174Thr Uncertain significance ★★ ⚠ same type
- COX10 p.Ala175Ser Uncertain significance ★★ ⚠ same type
- COX10 p.Ala175Val 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/cox10-p-val287 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown