ALB p.Gln567=
c.1701A>G · rs371123711 · VCV2052056
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0867%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.185 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.98 | GERP -3.7, phastCons 0.12 |
| Overall | ||
| CADD | 1.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0867%
African / African-American · 65/75,012 alleles
Filtering AF
0.0697%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0636%
Overall
0.00452%
73/1,614,016 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0867% | 1,154 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,501 |
| South Asian | 0.0022% | 45,541 |
| Admixed American | 0.00167% | 59,994 |
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.Gln567=
- Coding
- c.1701A>G
- MANE Select
- NM_001319193 · reported on NM_000477
- dbSNP
- rs371123711
- Type
- single nucleotide variant
- Location
- chr4:73419555 (GRCh38)
- Structure
- AlphaFold pLDDT 64.11
Similar variants
- FBF1 p.Arg567Trp Uncertain significance ★ ⚠ same residue
- 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
- ALB p.Arg23Cys Uncertain significance ★★ ⚠ same type
- ALB p.Asp197Tyr 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-gln567 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown