APBB1IP p.Phe208=
c.624C>T · rs149483004 · VCV722250
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.282%, amr)
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 0.29 | GERP -4.9, phastCons 1 |
| Overall | ||
| CADD | 12.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.282%
Admixed American · 169/60,018 alleles
Filtering AF
0.247%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.234%
Overall
0.0152%
245/1,614,140 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.282% | 355 |
| African / African-American | 0.0306% | 3,263 |
| Middle Eastern | 0.0165% | 6,062 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,627 |
| South Asian | 0.00549% | 18,214 |
| European (non-Finnish) | 0.00356% | 28,096 |
| Finnishnot grpmax-eligible | 0.00156% | 64,016 |
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.Phe208=
- Coding
- c.624C>T
- MANE Select
- NM_019043
- dbSNP
- rs149483004
- Type
- single nucleotide variant
- Location
- chr10:26511839 (GRCh38)
- Gene constraint
- LOEUF 0.585 · pLI 0.34 (gnomAD)
- Structure
- AlphaFold pLDDT 73.37 · 2 PDB
- Residue 208
- the ras-associating domain
Similar variants
- APBB1IP p.Ala617Thr Benign ★★ same type
- APBB1IP p.Ala622Val Benign ★★ same type
- APBB1IP p.Arg429Trp 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
- APBB1IP p.Ala609Val 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-phe208 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown