Is ALB p.Gly596Cys (c.1786G>T) pathogenic?

ALB p.Gly596Cys (c.1786G>T) is classified Uncertain significance in ALB (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-09). AlphaMissense: likely pathogenic (0.8911); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with ALB p.Gly596Cys (c.1786G>T)?

ALB p.Gly596Cys (c.1786G>T) is associated with Inborn genetic diseases (ClinVar).

How common is ALB p.Gly596Cys (c.1786G>T) in the general population?

ALB p.Gly596Cys (c.1786G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ALB p.Gly596Cys (c.1786G>T)?

AlphaMissense predicts likely pathogenic (score 0.8911) — an in-silico prediction, not a clinical call.

ALB p.Gly596Cys

c.1786G>T · VCV4268200

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8911 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.8911	likely pathogenic · top 1% in ALB
REVEL	0.441	indeterminate
SaProt	LLR -13.78	damaging
⇒ AlphaMissense and SaProt both call this damaging; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Pangolin	Δ0.21	loss · gain 0.00 · not in the SpliceAI release · independent
Constraint at this position
Conservation	phyloP 8.3	GERP 1.9, phastCons 1
Overall
CADD	34.0	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification

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: ALB
Protein: p.Gly596Cys
Coding: c.1786G>T
MANE Select: NM_001319193 · reported on NM_000477
Type: single nucleotide variant
Location: chr4:73420254 (GRCh38)
Structure: AlphaFold pLDDT 64.11

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ALB p.Ala324Pro Uncertain significance ★★ ⚠ same condition
ALB p.Ala387Ser Uncertain significance ★★ ⚠ same condition
ALB p.Asp197Tyr Uncertain significance ★★ ⚠ same condition
ALB p.His27Pro Uncertain significance ★★ ⚠ same condition
ALB p.Thr590Ile Uncertain significance ★★ ⚠ same condition
ALB p.Ala150Ser Uncertain significance ★ ⚠ same condition
ALB p.Ala195Thr Uncertain significance ★ ⚠ same condition
ALB p.Ala200Val Uncertain significance ★ ⚠ 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/alb-p-gly596cys (accessed [today's date]).

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