ABCB1 p.Ser893=
c.2679T>C · rs1584853041 · VCV748845
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,612,888)
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 -0.091 | GERP -0.69, phastCons 0.005 |
| Overall | ||
| CADD | 6.271 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,612,888). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ABCB1
- Protein
- p.Ser893=
- Coding
- c.2679T>C
- MANE Select
- NM_001348946
- dbSNP
- rs1584853041
- Type
- single nucleotide variant
- Location
- chr7:87531300 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.72 · 24 PDB
- Residue 893
- a turn; the abc transmembrane type-1 2 domain; a UniProt-annotated variant site (in enpat; likely pathogenic); a UniProt-annotated variant site (risk factor for ibd13; has decreased enzyme activity); a UniProt-annotated variant site (rare allele)
Similar variants
- ABCB1 p.Ser893Ala Benign ★★ same residue
- ABCB1 p.Ser893Thr Benign ★★ ⚠ same residue
- ABCB1 p.Ser893Tyr Likely pathogenic same residue
- 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
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-ser893 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown