ALB p.Glu417=
c.1251G>A · rs1339287688 · VCV2919758
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00322%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.021 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -4.4 | GERP -3.7 |
| Overall | ||
| CADD | 0.091 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00322%
European (non-Finnish) · 38/1,179,754 alleles
Filtering AF
0.00239%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0021%
Overall
0.00254%
41/1,613,536 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00322% | 31,046 |
| African / African-American | 0.00267% | 37,450 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,450 |
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.Glu417=
- Coding
- c.1251G>A
- MANE Select
- NM_001319193 · reported on NM_000477
- dbSNP
- rs1339287688
- Type
- single nucleotide variant
- Location
- chr4:73416315 (GRCh38)
- Structure
- AlphaFold pLDDT 64.11
- Residue 417
- 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-glu417 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown