CCL8 p.Ile57=
c.171C>A · rs34027928 · VCV780421
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.68%, 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 0.21 | GERP -1.3 |
| Overall | ||
| CADD | 0.989 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.68%
African / African-American · 2,008/74,982 alleles
Filtering AF
2.58%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.54%
Overall
0.141%
2,277/1,611,714 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.68% | 37 |
| Admixed American | 0.212% | 472 |
| Remaining individualsnot grpmax-eligible | 0.167% | 600 |
| Middle Eastern | 0.066% | 1,514 |
| South Asian | 0.00549% | 18,207 |
| European (non-Finnish) | 0.00246% | 40,614 |
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
- CCL8
- Protein
- p.Ile57=
- Coding
- c.171C>A
- MANE Select
- NM_005623
- dbSNP
- rs34027928
- Type
- single nucleotide variant
- Location
- chr17:34320363 (GRCh38)
- Gene constraint
- LOEUF 1.794 · pLI 0.22 (gnomAD)
- Structure
- AlphaFold pLDDT 89.44 · 3 PDB
- Residue 57
- a disulfide bond
Similar variants
- CCL8 p.Ala14Val Benign ★★ same type
- CCL8 p.Leu8= Benign ★★ same type
- CCL8 p.Ser29= Benign ★★ same type
- CCL8 p.Ala15Val Uncertain significance ★ ⚠ same type
- CCL8 p.Ala23Ser Uncertain significance ★ ⚠ same type
- CCL8 p.Ala5Thr Uncertain significance ★ ⚠ same type
- CCL8 p.Arg53Gly Uncertain significance ★ ⚠ same type
- CCL8 p.Asp85Tyr 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/ccl8-p-ile57 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown