APBB1IP p.Ala166=
c.498G>A · rs117705625 · VCV2640365
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.125%, nfe)
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 -3 | GERP -5.6 |
| Overall | ||
| CADD | 2.604 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.125%
European (non-Finnish) · 1,478/1,179,990 alleles
Filtering AF
0.12%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.118%
Overall
0.0985%
1,590/1,614,054 alleles · rare
exomes 1,490/1,461,810 · genomes 100/152,244 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.125% | 798 |
| Remaining individualsnot grpmax-eligible | 0.0592% | 1,689 |
| Finnishnot grpmax-eligible | 0.0547% | 1,829 |
| African / African-American | 0.024% | 4,168 |
| South Asian | 0.022% | 4,554 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| Admixed American | 0.00167% | 60,000 |
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
- APBB1IP
- Protein
- p.Ala166=
- Coding
- c.498G>A
- MANE Select
- NM_019043
- dbSNP
- rs117705625
- Type
- single nucleotide variant
- Location
- chr10:26503241 (GRCh38)
- Gene constraint
- LOEUF 0.585 · pLI 0.34 (gnomAD)
- Structure
- AlphaFold pLDDT 73.37 · 2 PDB
Similar variants
- APBB1IP p.Ala617Thr Benign ★★ same type
- APBB1IP p.Ala622Val Benign ★★ same type
- APBB1IP p.Arg429Trp Benign ★★ ⚠ same type
- APBB1IP p.Phe208= Benign ★★ same type
- APBB1IP p.Ala118Pro Uncertain significance ★ ⚠ same type
- APBB1IP p.Ala354Val Uncertain significance ★ ⚠ same type
- APBB1IP p.Ala41Thr Uncertain significance ★ ⚠ same type
- APBB1IP p.Ala504Val Uncertain significance ★ ⚠ 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/apbb1ip-p-ala166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown