COA8 p.Lys8=
c.24G>A · VCV3705706
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00752%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.09 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -3.2 | GERP -0.074 |
| Overall | ||
| CADD | 2.459 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00752%
European (non-Finnish) · 87/1,156,818 alleles
Filtering AF
0.00617%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00576%
Overall
0.00585%
91/1,555,962 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00752% | 13,297 |
| Remaining individualsnot grpmax-eligible | 0.0033% | 30,284 |
| Admixed American | 0.00184% | 54,228 |
| African / African-American | 0.00135% | 73,962 |
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
- COA8
- Protein
- p.Lys8=
- Coding
- c.24G>A
- MANE Select
- NM_001370595
- Type
- single nucleotide variant
- Location
- chr14:103563025 (GRCh38)
- Gene constraint
- LOEUF 1.305 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.19
Similar variants
- COA8 p.Lys8Arg Benign ★★ same residue
- COA8 p.Arg66Ter Pathogenic ★★ same type
- COA8 c.-32C>G Uncertain significance ★★ ⚠ same type
- COA8 p.Ala140Val Uncertain significance ★★ ⚠ same type
- COA8 p.Ala176Gly Uncertain significance ★★ ⚠ same type
- COA8 p.Ala27Val Uncertain significance ★★ ⚠ same type
- COA8 p.Arg164Cys Uncertain significance ★★ ⚠ same type
- COA8 p.Arg17Leu 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/coa8-p-lys8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown