ABCB4 p.Val474fs
c.1420del · VCV4846661
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
gallbladder disease 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.3 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCB4
- Protein
- p.Val474fs
- Coding
- c.1420del
- MANE Select
- NM_000443
- Type
- Deletion
- Location
- chr7:87440339 (GRCh38)
- Gene constraint
- LOEUF 0.623 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 83.36 · 4 PDB
- Residue 474
- a β-strand; the abc transporter 1 domain
Disease context
gallbladder disease 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Low phospholipid-associated cholelithiasis (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Adult
Similar variants
- ABCB4 p.Gln458fs Pathogenic ★★ same condition
- ABCB4 p.Leu518fs Pathogenic/Likely pathogenic ★★ same condition
- ABCB4 p.Lys1026fs Pathogenic/Likely pathogenic ★★ same condition
- ABCB4 p.Lys30fs Pathogenic/Likely pathogenic ★★ same condition
- ABCB4 p.Ser339fs Pathogenic/Likely pathogenic ★★ same condition
- ABCB4 p.Cys433_Gly434del Uncertain significance ★★ same condition
- ABCB4 c.1231-81del Benign ★★ same condition
- ABCB4 c.2479-66del Benign ★★ 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/abcb4-p-val474fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown