Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.76%, afr)
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 -3.7 | GERP -3.5 |
| Overall | ||
| CADD | 3.615 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.76%
African / African-American · 3,573/75,038 alleles
Filtering AF
4.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.58%
Overall
0.263%
4,246/1,614,190 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.76% | 21 |
| Remaining individualsnot grpmax-eligible | 0.435% | 230 |
| Middle Eastern | 0.379% | 264 |
| Admixed American | 0.372% | 269 |
| South Asian | 0.022% | 4,554 |
| European (non-Finnish) | 0.0114% | 8,741 |
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
- COIL
- Protein
- p.Glu278=
- Coding
- c.834G>A
- MANE Select
- NM_004645
- dbSNP
- rs8066645
- Type
- single nucleotide variant
- Location
- chr17:56950408 (GRCh38)
- Gene constraint
- LOEUF 0.755 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 59.46
- Residue 278
- the 'disordered' region
Similar variants
- COIL p.Val145Ile Benign ★★ same type
- COIL p.Ala362Ser Uncertain significance ★ ⚠ same type
- COIL p.Ala69Thr Uncertain significance ★ ⚠ same type
- COIL p.Arg112Trp Uncertain significance ★ ⚠ same type
- COIL p.Arg352His Uncertain significance ★ ⚠ same type
- COIL p.Arg352Leu Uncertain significance ★ ⚠ same type
- COIL p.Arg369Cys Uncertain significance ★ ⚠ same type
- COIL p.Arg410Gln 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/coil-p-glu278 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown