Is ALB p.Glu503Val (c.1508A>T) pathogenic?

ALB p.Glu503Val (c.1508A>T) is classified Uncertain significance in ALB (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). AlphaMissense: likely benign (0.3341); Absent from gnomAD v4.1; Associated with hyperthyroxinemia, familial dysalbuminemic.

What condition is associated with ALB p.Glu503Val (c.1508A>T)?

ALB p.Glu503Val (c.1508A>T) is associated with hyperthyroxinemia, familial dysalbuminemic (ClinVar).

How common is ALB p.Glu503Val (c.1508A>T) in the general population?

ALB p.Glu503Val (c.1508A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ALB p.Glu503Val (c.1508A>T)?

AlphaMissense predicts likely benign (score 0.3341) — an in-silico prediction, not a clinical call.

ALB p.Glu503Val

c.1508A>T · rs886059621 · VCV349636

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.3341 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

hyperthyroxinemia, familial dysalbuminemic

Computational evidence

Protein change
AlphaMissense	0.3341	likely benign
REVEL	0.362	indeterminate
SaProt	LLR -6.71	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.6	GERP 0.68, phastCons 0.99
Overall
CADD	21.3	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — 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.Glu503Val
Coding: c.1508A>T
MANE Select: NM_001319193 · reported on NM_000477
dbSNP: rs886059621
Type: single nucleotide variant
Location: chr4:73418167 (GRCh38)
Structure: AlphaFold pLDDT 64.11
Residue 503: the 'disordered' region

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

Disease context

hyperthyroxinemia, familial dysalbuminemic — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ALB p.Ala83Gly Uncertain significance ★★ ⚠ same condition
ALB p.Arg105His Uncertain significance ★★ ⚠ same condition
ALB p.Arg23Cys Uncertain significance ★★ ⚠ same condition
ALB p.Asp37Asn Uncertain significance ★★ ⚠ same condition
ALB p.Cys384Arg Uncertain significance ★★ ⚠ same condition
ALB p.Thr491Met Uncertain significance ★★ ⚠ same condition
ALB c.1191+11T>A Benign ★★ same condition
ALB c.1290-6T>C Benign/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/alb-p-glu503val (accessed [today's date]).

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