ALB p.Ser216=
c.648G>C · rs140065129 · VCV2975622
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.017 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.71 | GERP -3.1, phastCons 0.023 |
| Overall | ||
| CADD | 0.233 | PHRED · no single calibrated threshold — expert panels disagree |
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.Ser216=
- Coding
- c.648G>C
- MANE Select
- NM_001319193 · reported on NM_000477
- dbSNP
- rs140065129
- Type
- single nucleotide variant
- Location
- chr4:73410344 (GRCh38)
- Structure
- AlphaFold pLDDT 64.11
- Residue 216
- 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-ser216 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown