Is ACP4 p.Pro155= (c.465C>T) pathogenic?

ACP4 p.Pro155= (c.465C>T) is classified Likely benign in ACP4 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-06-10). Ultra-rare (popmax 0.0988%, amr); Associated with ACP4-related disorder.

What condition is associated with ACP4 p.Pro155= (c.465C>T)?

ACP4 p.Pro155= (c.465C>T) is associated with ACP4-related disorder (ClinVar).

How common is ACP4 p.Pro155= (c.465C>T) in the general population?

ACP4 p.Pro155= (c.465C>T) is ultra-rare (popmax 0.0988%, amr) (gnomAD).

ACP4 p.Pro155=

c.465C>T · rs777100668 · VCV3044610

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0988%, amr)

Conditions

ACP4-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 0.19	GERP -1.8, phastCons 0.54
Overall
CADD	10.08	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0988% Admixed American · 55/55,650 alleles

Filtering AF 0.0779% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0704%

Overall 0.00359% 57/1,589,228 alleles · ultra-rare exomes 53/1,436,996 · genomes 4/152,232 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0988%	1,012
Remaining individualsnot grpmax-eligible	0.00326%	30,710

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: ACP4
Protein: p.Pro155=
Coding: c.465C>T
MANE Select: NM_033068
dbSNP: rs777100668
Type: single nucleotide variant
Location: chr19:50792087 (GRCh38)
Gene constraint: LOEUF 1.413 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.30

Full ACP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ACP4-related disorder

Similar variants

ACP4 c.1165+2T>G Likely benign same condition
ACP4 c.549+7A>G Likely benign same condition
ACP4 p.Ala121= Likely benign same condition
ACP4 p.Ala325Asp Benign same condition
ACP4 p.Ala325Thr Benign same condition
ACP4 p.His218= Likely benign same condition
ACP4 p.Pro46= Likely benign same condition
ACP4 p.Ser341= Likely benign same condition

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/acp4-p-pro155 (accessed [today's date]).

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