ALB p.Thr520=
c.1560A>G · rs2149329589 · VCV2856192
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.062 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.82 | donor gain · deltas |
| Pangolin | Δ0.42 | gain · loss 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP -0.003 | GERP -3.7 |
| Overall | ||
| CADD | 16.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,180,012 alleles
Overall
6.84e-05%
1/1,461,842 alleles · very rare
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.Thr520=
- Coding
- c.1560A>G
- MANE Select
- NM_001319193 · reported on NM_000477
- dbSNP
- rs2149329589
- Type
- single nucleotide variant
- Location
- chr4:73418219 (GRCh38)
- Structure
- AlphaFold pLDDT 64.11
- Residue 520
- the 'disordered' region
Similar variants
- ALB p.Thr520Ala 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-thr520 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown