Is ALB p.Ala324Pro (c.970G>C) pathogenic?

ALB p.Ala324Pro (c.970G>C) is classified Uncertain significance in ALB (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-06-08). AlphaMissense: likely benign (0.113); Ultra-rare (popmax 0.0111%, eas); Associated with Inborn genetic diseases.

What condition is associated with ALB p.Ala324Pro (c.970G>C)?

ALB p.Ala324Pro (c.970G>C) is associated with Inborn genetic diseases (ClinVar).

How common is ALB p.Ala324Pro (c.970G>C) in the general population?

ALB p.Ala324Pro (c.970G>C) is ultra-rare (popmax 0.0111%, eas) (gnomAD).

What do computational predictors say about ALB p.Ala324Pro (c.970G>C)?

AlphaMissense predicts likely benign (score 0.113) — an in-silico prediction, not a clinical call.

ALB p.Ala324Pro

c.970G>C · rs201904433 · VCV1365904

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.113 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0111%, eas)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.113	likely benign
REVEL	0.123	moderately benign-leaning
SaProt	LLR -9.98	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.26	GERP -2.5
Overall
CADD	6.432	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

Grpmax group 0.0111% East Asian · 5/44,880 alleles

Filtering AF 0.00435% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00276%

Overall 0.00062% 10/1,614,198 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0111%	8,976
European (non-Finnish)	0.000424%	236,007

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.Ala324Pro
Coding: c.970G>C
MANE Select: NM_001319193 · reported on NM_000477
dbSNP: rs201904433
Type: single nucleotide variant
Location: chr4:73413546 (GRCh38)
Structure: AlphaFold pLDDT 64.11
Residue 324: the 'disordered' region

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.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
ALB p.Ala552Val 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-ala324pro (accessed [today's date]).

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