Is ALB p.Arg24Pro (c.71G>C) pathogenic?

ALB p.Arg24Pro (c.71G>C) is classified Pathogenic in ALB (ClinVar, No assertion criteria, 1 submitter; last evaluated 1987-07-01). AlphaMissense: likely pathogenic (0.8484); Absent from gnomAD v4.1; Associated with Alloalbuminemia.

What condition is associated with ALB p.Arg24Pro (c.71G>C)?

ALB p.Arg24Pro (c.71G>C) is associated with Alloalbuminemia (ClinVar).

How common is ALB p.Arg24Pro (c.71G>C) in the general population?

ALB p.Arg24Pro (c.71G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ALB p.Arg24Pro (c.71G>C)?

AlphaMissense predicts likely pathogenic (score 0.8484) — an in-silico prediction, not a clinical call.

ALB p.Arg24Pro

c.71G>C · rs74821926 · VCV18186

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8484 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

Alloalbuminemia

Computational evidence

Protein change
AlphaMissense	0.8484	likely pathogenic ✓ concordant with ClinVar · top 2% in ALB
REVEL	0.606	indeterminate
SaProt	LLR -10.80	damaging
⇒ AlphaMissense and SaProt both call this damaging; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.8	GERP 1.9, phastCons 1
Overall
CADD	32.0	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

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.Arg24Pro
Coding: c.71G>C
MANE Select: NM_001319193 · reported on NM_000477
dbSNP: rs74821926
Type: single nucleotide variant
Location: chr4:73404398 (GRCh38)
Structure: AlphaFold pLDDT 64.11

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

Disease context

Alloalbuminemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ALB p.Arg24Ter Pathogenic ★ same residue
ALB p.Arg24Gln Uncertain significance ★ ⚠ same residue
ALB p.Asp25Val Pathogenic ⚠ same condition
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

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-arg24pro (accessed [today's date]).

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