Is CCL11 p.Val28= (c.84C>G) pathogenic?

CCL11 p.Val28= (c.84C>G) is classified Likely benign in CCL11 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-06-05). Very rare (popmax 0.005%, amr); Associated with CCL11-related disorder.

What condition is associated with CCL11 p.Val28= (c.84C>G)?

CCL11 p.Val28= (c.84C>G) is associated with CCL11-related disorder (ClinVar).

How common is CCL11 p.Val28= (c.84C>G) in the general population?

CCL11 p.Val28= (c.84C>G) is very rare (popmax 0.005%, amr) (gnomAD).

CCL11 p.Val28=

c.84C>G · rs375131716 · VCV3038823

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.005%, amr)

Conditions

CCL11-related disorder

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 -1.4	GERP -3.4
Overall
CADD	0.479	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.005% Admixed American · 3/59,992 alleles

Filtering AF 0.00133% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000668%

Overall 0.000186% 3/1,612,968 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: CCL11
Protein: p.Val28=
Coding: c.84C>G
MANE Select: NM_002986
dbSNP: rs375131716
Type: single nucleotide variant
Location: chr17:34287103 (GRCh38)
Gene constraint: LOEUF 1.742 · pLI 0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.65 · 4 PDB
Residue 28: a β-strand

Full CCL11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CCL11-related disorder

Similar variants

CCL11 p.Val28Leu Uncertain significance ★ ⚠ same residue
CCL11 p.Ala23Thr Benign ⚠ same condition
CCL11 p.Lys86Thr Benign ★★ ⚠ same type
CCL11 p.Ala16Val Uncertain significance ★ ⚠ same type
CCL11 p.Ala23Val Uncertain significance ★ ⚠ same type
CCL11 p.Ala5Ser Uncertain significance ★ ⚠ same type
CCL11 p.Ala61Ser Uncertain significance ★ ⚠ same type
CCL11 p.Ala69Asp 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/ccl11-p-val28 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown