ALB p.Lys438=
c.1314A>G · rs535095664 · VCV1599424
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.189%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.218 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP -0.73, phastCons 0.94 |
| Overall | ||
| CADD | 8.272 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.189%
East Asian · 85/44,860 alleles
Filtering AF
0.157%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.145%
Overall
0.00564%
91/1,614,148 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.189% | 528 |
| Middle Eastern | 0.0165% | 6,062 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,253 |
| European (non-Finnish) | 0.000254% | 393,337 |
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.Lys438=
- Coding
- c.1314A>G
- MANE Select
- NM_001319193 · reported on NM_000477
- dbSNP
- rs535095664
- Type
- single nucleotide variant
- Location
- chr4:73417555 (GRCh38)
- Structure
- AlphaFold pLDDT 64.11
- Residue 438
- the 'disordered' region
Similar variants
- 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
- ALB p.Asp37Asn 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-lys438 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown