ALB p.Val367fs
c.1098dup · rs1577939845 · VCV636260
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 0.9, phastCons 0.82 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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.Val367fs
- Coding
- c.1098dup
- MANE Select
- NM_001319193 · reported on NM_000477
- dbSNP
- rs1577939845
- Type
- Duplication
- Location
- chr4:73415073 (GRCh38)
- Structure
- AlphaFold pLDDT 64.11
- Residue 367
- the 'disordered' region
Similar variants
- ALB p.Arg138Ter Pathogenic ★★ same condition
- ALB p.Val557Met Uncertain significance ★★ same condition
- ALB c.1428+2T>C Likely pathogenic ★ same condition
- ALB p.Glu69Ter Likely pathogenic ★ same condition
- ALB p.Lys219fs Likely pathogenic ★ same condition
- ALB p.Arg24Gln Uncertain significance ★ same condition
- ALB p.Gln56Ter Pathogenic same condition
- ALB p.Trp238Ter Pathogenic same condition
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-val367fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown