Is ALB p.Asn415Ile (c.1244A>T) pathogenic?

ALB p.Asn415Ile (c.1244A>T) is classified Uncertain significance in ALB (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-06-09). AlphaMissense: likely pathogenic (0.9202); Absent from gnomAD v4.1; Associated with ALB-related disorder.

What condition is associated with ALB p.Asn415Ile (c.1244A>T)?

ALB p.Asn415Ile (c.1244A>T) is associated with ALB-related disorder (ClinVar).

How common is ALB p.Asn415Ile (c.1244A>T) in the general population?

ALB p.Asn415Ile (c.1244A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ALB p.Asn415Ile (c.1244A>T)?

AlphaMissense predicts likely pathogenic (score 0.9202) — an in-silico prediction, not a clinical call.

ALB p.Asn415Ile

c.1244A>T · VCV3344578

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9202 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

ALB-related disorder

Computational evidence

Protein change
AlphaMissense	0.9202	likely pathogenic · top 1% in ALB
REVEL	0.363	indeterminate
SaProt	LLR -7.74	tolerated
⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.7	GERP -0.72, phastCons 0.99
Overall
CADD	23.4	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.Asn415Ile
Coding: c.1244A>T
MANE Select: NM_001319193 · reported on NM_000477
Type: single nucleotide variant
Location: chr4:73416308 (GRCh38)
Structure: AlphaFold pLDDT 64.11
Residue 415: the 'disordered' region

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

Disease context

ALB-related disorder

Similar variants

ALB p.Arg242His Conflicting classifications of pathogenicity ★ ⚠ same condition
ALB p.Glu594Lys Pathogenic ⚠ same condition
ALB p.Ser226Arg Uncertain significance ⚠ same condition
ALB p.Val78fs 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

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-asn415ile (accessed [today's date]).

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