Is ALB p.Lys305Gln (c.913A>C) pathogenic?

ALB p.Lys305Gln (c.913A>C) is classified Uncertain significance in ALB (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-13). AlphaMissense: likely benign (0.2574); Ultra-rare (popmax 0.0178%, eas); Associated with Inborn genetic diseases.

What condition is associated with ALB p.Lys305Gln (c.913A>C)?

ALB p.Lys305Gln (c.913A>C) is associated with Inborn genetic diseases (ClinVar).

How common is ALB p.Lys305Gln (c.913A>C) in the general population?

ALB p.Lys305Gln (c.913A>C) is ultra-rare (popmax 0.0178%, eas) (gnomAD).

What do computational predictors say about ALB p.Lys305Gln (c.913A>C)?

AlphaMissense predicts likely benign (score 0.2574) — an in-silico prediction, not a clinical call.

ALB p.Lys305Gln

c.913A>C · VCV3283263

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.2574 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0178%, eas)

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.2574	likely benign
REVEL	0.56	indeterminate
SaProt	LLR -10.34	damaging
⇒ SaProt calls this damaging; AlphaMissense does not; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.1	GERP 0.48, phastCons 1
Overall
CADD	21.2	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 0.0178% East Asian · 8/44,888 alleles

Filtering AF 0.00883% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00641%

Overall 0.000743% 12/1,614,088 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0178%	5,611
Remaining individualsnot grpmax-eligible	0.0016%	62,484
African / African-American	0.00133%	74,948
European (non-Finnish)	0.000169%	590,019

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.Lys305Gln
Coding: c.913A>C
MANE Select: NM_001319193 · reported on NM_000477
Type: single nucleotide variant
Location: chr4:73413489 (GRCh38)
Structure: AlphaFold pLDDT 64.11
Residue 305: 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.Lys305Glu Uncertain significance ★ ⚠ same residue
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

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-lys305gln (accessed [today's date]).

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