ABCB4 p.Arg816fs
c.2446del · rs1554401344 · VCV499077
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 20 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 1.9, phastCons 1 |
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
- ABCB4
- Protein
- p.Arg816fs
- Coding
- c.2446del
- MANE Select
- NM_000443
- dbSNP
- rs1554401344
- Type
- Deletion
- Location
- chr7:87418569 (GRCh38)
- Gene constraint
- LOEUF 0.623 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 83.36 · 4 PDB
- Residue 816
- an α-helix; the abc transmembrane type-1 2 domain
Similar variants
- ABCB4 p.Arg816Gly Uncertain significance ★★ ⚠ same residue
- ABCB4 p.Asp682fs Pathogenic ★★ same type
- ABCB4 p.Gln458fs Pathogenic ★★ same type
- ABCB4 p.Leu518fs Pathogenic/Likely pathogenic ★★ same type
- ABCB4 p.Lys1026fs Pathogenic/Likely pathogenic ★★ same type
- ABCB4 p.Lys30fs Pathogenic/Likely pathogenic ★★ same type
- ABCB4 p.Ser339fs Pathogenic/Likely pathogenic ★★ same type
- ABCB4 p.Thr34fs Pathogenic/Likely pathogenic ★★ 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/abcb4-p-arg816fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown