ABCB1 p.Ile598=
c.1794C>T · rs28381915 · VCV747402
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.313%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -12 | GERP -3.7 |
| Overall | ||
| CADD | 0.414 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.313%
Middle Eastern · 19/6,062 alleles
Filtering AF
0.205%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.171%
Overall
0.0186%
301/1,614,084 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.313% | 319 |
| European (non-Finnish) | 0.0215% | 4,646 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,251 |
| African / African-American | 0.0107% | 9,378 |
| Admixed American | 0.00666% | 15,007 |
| South Asian | 0.00329% | 30,360 |
| Finnishnot grpmax-eligible | 0.00312% | 32,001 |
| East Asian | 0.00223% | 44,864 |
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
- ABCB1
- Protein
- p.Ile598=
- Coding
- c.1794C>T
- MANE Select
- NM_001348946
- dbSNP
- rs28381915
- Type
- single nucleotide variant
- Location
- chr7:87545956 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.72 · 24 PDB
- Residue 598
- a β-strand; the abc transporter 1 domain
Similar variants
- ABCB1 c.287-25G>T Benign ★★ same type
- ABCB1 p.Ala1132= Benign/Likely benign ★★ same type
- ABCB1 p.Gln1107Pro Benign/Likely benign ★★ same type
- ABCB1 p.Glu243= Benign/Likely benign ★★ same type
- ABCB1 p.Glu618= Likely benign ★★ same type
- ABCB1 p.Gly412= Benign ★★ same type
- ABCB1 p.Ile1145= Benign ★★ same type
- ABCB1 p.Ile261Val Benign ★★ 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/abcb1-p-ile598 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown