COA8 p.Ala18=
c.54C>T · rs1450846954 · VCV1939999
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000261%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.192 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.23 | GERP -1.5 |
| Overall | ||
| CADD | 7.056 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000261%
European (non-Finnish) · 3/1,147,886 alleles
Filtering AF
7e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000195%
3/1,539,062 alleles · very rare
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.Ala18=
- Coding
- c.54C>T
- MANE Select
- NM_001370595
- dbSNP
- rs1450846954
- Type
- single nucleotide variant
- Location
- chr14:103563055 (GRCh38)
- Gene constraint
- LOEUF 1.305 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.19
Similar variants
- 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
- COA8 p.Arg34Leu 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-ala18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown