ABCB1 p.Lys702=
c.2106G>A · rs143151234 · VCV754649
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0472%, sas)
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 1.1 | GERP -1.6, phastCons 0.67 |
| Overall | ||
| CADD | 7.845 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0472%
South Asian · 43/91,062 alleles
Filtering AF
0.036%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0321%
Overall
0.0216%
349/1,613,518 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0472% | 2,118 |
| European (non-Finnish) | 0.0247% | 4,055 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,805 |
| Admixed American | 0.00667% | 14,999 |
| African / African-American | 0.00401% | 24,963 |
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.Lys702=
- Coding
- c.2106G>A
- MANE Select
- NM_001348946
- dbSNP
- rs143151234
- Type
- single nucleotide variant
- Location
- chr7:87544234 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.72 · 24 PDB
- Residue 702
- an α-helix
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-lys702 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown