Is ALB p.Asp574Gly (c.1721A>G) pathogenic?

ALB p.Asp574Gly (c.1721A>G) is classified Benign/Likely benign in ALB (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-01). AlphaMissense: likely benign (0.1348); Rare (popmax 0.537%, amr).

How common is ALB p.Asp574Gly (c.1721A>G) in the general population?

ALB p.Asp574Gly (c.1721A>G) is rare (popmax 0.537%, amr) (gnomAD).

What do computational predictors say about ALB p.Asp574Gly (c.1721A>G)?

AlphaMissense predicts likely benign (score 0.1348) — an in-silico prediction, not a clinical call.

ALB p.Asp574Gly

c.1721A>G · rs79738788 · VCV18204

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

AlphaMissense

likely benign

0.1348 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.537%, amr)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.1348	likely benign
REVEL	0.404	indeterminate
SaProt	LLR -4.58	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · A>T here scores Δ0.32 · evaluated, not missing
Constraint at this position
Conservation	phyloP 2.6	GERP 0.61, phastCons 0.003
Overall
CADD	10.25	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

Grpmax group 0.537% Admixed American · 322/59,938 alleles

Filtering AF 0.489% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.47%

Overall 0.0203% 328/1,613,758 alleles · rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.537%	186
Remaining individualsnot grpmax-eligible	0.0064%	15,621
African / African-American	0.00134%	74,862
European (non-Finnish)	8.48e-05%	1,179,933

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: ALB
Protein: p.Asp574Gly
Coding: c.1721A>G
MANE Select: NM_001319193 · reported on NM_000477
dbSNP: rs79738788
Type: single nucleotide variant
Location: chr4:73419575 (GRCh38)
Structure: AlphaFold pLDDT 64.11
Residue 574: a UniProt-annotated variant site (in)

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

Similar variants

ALB p.Arg138Ter Pathogenic ★★ same type
ALB p.Ala324Pro Uncertain significance ★★ ⚠ same type
ALB p.Ala387Ser Uncertain significance ★★ ⚠ same type
ALB p.Ala83Gly Uncertain significance ★★ ⚠ same type
ALB p.Arg105His Uncertain significance ★★ ⚠ same type
ALB p.Arg23Cys Uncertain significance ★★ ⚠ same type
ALB p.Asp197Tyr Uncertain significance ★★ ⚠ same type
ALB p.Asp37Asn 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/alb-p-asp574gly (accessed [today's date]).

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