Is CCL4 p.Asp29Val (c.86A>T) pathogenic?

CCL4 p.Asp29Val (c.86A>T) is classified Uncertain significance in CCL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-22). AlphaMissense: ambiguous (0.4008); Absent from gnomAD v4.1.

How common is CCL4 p.Asp29Val (c.86A>T) in the general population?

CCL4 p.Asp29Val (c.86A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CCL4 p.Asp29Val (c.86A>T)?

AlphaMissense predicts ambiguous (score 0.4008) — an in-silico prediction, not a clinical call.

CCL4 p.Asp29Val

c.86A>T · VCV4221949

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4008 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
AlphaMissense	0.4008	ambiguous
REVEL	0.317	indeterminate
SaProt	LLR -10.52	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 10	phastCons 1
Regional constraint	o/e 0.95	unconstrained · MANE · 1,403 bp · p 0.62 · regional, not allelic
Overall
CADD	26.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CCL4
Protein: p.Asp29Val
Coding: c.86A>T
MANE Select: NM_002984
Type: single nucleotide variant
Location: chr17:36104537 (GRCh38)
Gene constraint: LOEUF 1.443 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.72 · 8 PDB

Full CCL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CCL4 p.Ala40Ser Uncertain significance ★ ⚠ same type
CCL4 p.Ala40Thr Uncertain significance ★ ⚠ same type
CCL4 p.Arg45Cys Uncertain significance ★ ⚠ same type
CCL4 p.Asp88Val Uncertain significance ★ ⚠ same type
CCL4 p.Cys4Trp Uncertain significance ★ ⚠ same type
CCL4 p.Gln66Glu Uncertain significance ★ ⚠ same type
CCL4 p.Leu43Val Uncertain significance ★ ⚠ same type
CCL4 p.Phe17Leu 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/ccl4-p-asp29val (accessed [today's date]).

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