ABCB4 p.Gln725Pro
c.2174_2175delinsCC · VCV4846590
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
familial intrahepatic cholestasis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 0.12, phastCons 1 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 14 kb · p 0.53 · regional, not allelic |
Variant & gene context
- Gene
- ABCB4
- Protein
- p.Gln725Pro
- Coding
- c.2174_2175delinsCC
- MANE Select
- NM_000443
- Type
- Indel
- Location
- chr7:87423942 (GRCh38)
- Gene constraint
- LOEUF 0.623 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 83.36 · 4 PDB
- Residue 725
- an α-helix; the abc transmembrane type-1 2 domain
Similar variants
- ABCB4 p.Ala1047fs Pathogenic ★★ same condition
- ABCB4 p.Ala1151Val Uncertain significance ★ same condition
- ABCB4 c.2064+3A>T Likely pathogenic ★★ same condition
- ABCB4 c.2682+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ABCB4 c.2783+1G>T Pathogenic/Likely pathogenic ★★ same condition
- ABCB4 c.286+1G>A Pathogenic ★★ same condition
- ABCB4 c.3081+1G>C Pathogenic ★★ same condition
- ABCB4 c.3486+1G>A Pathogenic/Likely 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/abcb4-p-gln725pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown