CCL8 p.Ser29=
c.87C>T · rs41339751 · VCV731252
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.56%, eas)
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 -0.92 | GERP -3.7 |
| Overall | ||
| CADD | 9.128 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.56%
East Asian · 701/44,836 alleles
Filtering AF
1.47%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.43%
Overall
0.0513%
826/1,611,454 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.56% | 64 |
| Remaining individualsnot grpmax-eligible | 0.133% | 752 |
| South Asian | 0.0242% | 4,138 |
| African / African-American | 0.00667% | 14,990 |
| Admixed American | 0.00667% | 14,991 |
| European (non-Finnish) | 0.000934% | 107,066 |
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.Ser29=
- Coding
- c.87C>T
- MANE Select
- NM_005623
- dbSNP
- rs41339751
- Type
- single nucleotide variant
- Location
- chr17:34320279 (GRCh38)
- Gene constraint
- LOEUF 1.794 · pLI 0.22 (gnomAD)
- Structure
- AlphaFold pLDDT 89.44 · 3 PDB
- Residue 29
- an α-helix
Similar variants
- CCL8 p.Ala14Val Benign ★★ same type
- CCL8 p.Ile57= Benign ★★ same type
- CCL8 p.Leu8= 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-ser29 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown