COA6 p.Glu30=
c.90G>A · rs781144654 · VCV510543
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00984%, nfe)
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 0.64 | GERP -0.051 |
| Overall | ||
| CADD | 7.792 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00984%
European (non-Finnish) · 116/1,179,374 alleles
Filtering AF
0.00834%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00777%
Overall
0.00782%
126/1,611,886 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00984% | 10,167 |
| Finnishnot grpmax-eligible | 0.00954% | 10,477 |
| Remaining individualsnot grpmax-eligible | 0.00641% | 15,591 |
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
- COA6
- Protein
- p.Glu30=
- Coding
- c.90G>A
- MANE Select
- NM_001206641
- dbSNP
- rs781144654
- Type
- single nucleotide variant
- Location
- chr1:234373556 (GRCh38)
- Gene constraint
- LOEUF 1.065 · pLI 0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.74 · 3 PDB
Similar variants
- COA6 c.212+114G>T Uncertain significance ★★ ⚠ same type
- COA6 p.Met82Val Uncertain significance ★★ ⚠ same type
- COA6 p.Ser114Gly Uncertain significance ★★ ⚠ same type
- COA6 c.212+144C>G Benign/Likely benign ★★ same type
- COA6 c.212+154A>G Likely benign ★★ same type
- COA6 c.212+162G>A Benign/Likely benign ★★ same type
- COA6 c.213-105T>G Likely benign ★★ same type
- COA6 c.213-111T>G 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/coa6-p-glu30 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown