Is ABCA7 p.Ala1441= (c.4323G>T) pathogenic?

ABCA7 p.Ala1441= (c.4323G>T) is classified Likely benign in ABCA7 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-09-30). Low-frequency (popmax 1.32%, eas); Associated with ABCA7-related disorder.

What condition is associated with ABCA7 p.Ala1441= (c.4323G>T)?

ABCA7 p.Ala1441= (c.4323G>T) is associated with ABCA7-related disorder (ClinVar).

How common is ABCA7 p.Ala1441= (c.4323G>T) in the general population?

ABCA7 p.Ala1441= (c.4323G>T) is low-frequency (popmax 1.32%, eas) (gnomAD).

ABCA7 p.Ala1441=

c.4323G>T · rs150594667 · VCV3040762

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

low-frequency (popmax 1.32%, eas)

Conditions

ABCA7-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 -9.7	GERP -2.3
Overall
CADD	0.02	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.32% East Asian · 591/44,870 alleles

Filtering AF 1.23% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.19%

Overall 0.0454% 731/1,609,448 alleles · low-frequency

Ancestry group	Frequency	1 in
East Asiangrpmax	1.32%	76
Remaining individualsnot grpmax-eligible	0.163%	612
African / African-American	0.0267%	3,752
South Asian	0.0077%	12,993
Admixed American	0.005%	19,981
European (non-Finnish)	0.000678%	147,440

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: ABCA7
Protein: p.Ala1441=
Coding: c.4323G>T
MANE Select: NM_019112
dbSNP: rs150594667
Type: single nucleotide variant
Location: chr19:1056150 (GRCh38)
Gene constraint: LOEUF 1.368 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.77 · 6 PDB
Residue 1441: a turn

Full ABCA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ABCA7-related disorder

Similar variants

ABCA7 c.4417-1G>C Likely pathogenic ★ same condition
ABCA7 p.Gln1083Ter Pathogenic ★ same condition
ABCA7 p.Arg1754Ter Likely pathogenic same condition
ABCA7 p.Glu269Ter Likely pathogenic same condition
ABCA7 c.790+10T>G Benign same condition
ABCA7 c.-9A>G Benign same condition
ABCA7 p.Ala1864= Benign same condition
ABCA7 p.Ala589= 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/abca7-p-ala1441 (accessed [today's date]).

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