ABCB1 p.Pro927=
c.2781A>G · rs779463513 · VCV764247
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00204%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.22 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.33 | gain · loss 0.16 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -3.4, phastCons 0.001 |
| Overall | ||
| CADD | 13.54 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00204%
European (non-Finnish) · 24/1,179,250 alleles
Filtering AF
0.00138%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00116%
Overall
0.00155%
25/1,613,150 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00204% | 49,135 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,460 |
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.Pro927=
- Coding
- c.2781A>G
- MANE Select
- NM_001348946
- dbSNP
- rs779463513
- Type
- single nucleotide variant
- Location
- chr7:87520781 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.72 · 24 PDB
- Residue 927
- an α-helix; the abc transmembrane type-1 2 domain; a UniProt-annotated variant site (in enpat; likely pathogenic)
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-pro927 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown