AAGAB p.Arg223=
c.669G>A · rs117853536 · VCV769885
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.86%, eas)
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 -0.42 | GERP 1.4 |
| Overall | ||
| CADD | 0.977 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.86%
East Asian · 1,284/44,886 alleles
Filtering AF
2.73%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.68%
Overall
0.125%
2,017/1,614,130 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 2.86% | 35 |
| Admixed American | 0.362% | 277 |
| Remaining individualsnot grpmax-eligible | 0.214% | 466 |
| Finnishnot grpmax-eligible | 0.205% | 489 |
| South Asian | 0.113% | 884 |
| Middle Eastern | 0.0165% | 6,062 |
| European (non-Finnish) | 0.0119% | 8,429 |
| African / African-American | 0.00933% | 10,719 |
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
- AAGAB
- Protein
- p.Arg223=
- Coding
- c.669G>A
- MANE Select
- NM_024666
- dbSNP
- rs117853536
- Type
- single nucleotide variant
- Location
- chr15:67208608 (GRCh38)
- Gene constraint
- LOEUF 1.156 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.41 · 3 PDB
- Residue 223
- the 'disordered' region
Similar variants
- AAGAB p.Arg223Pro Uncertain significance ★ ⚠ same residue
- AAGAB p.Arg223Trp Uncertain significance ★ ⚠ same residue
- AAGAB p.Arg124Ter Pathogenic ★★ same type
- AAGAB p.Arg161Ter Pathogenic ★★ same type
- AAGAB p.Gln21Ter Pathogenic ★★ same type
- AAGAB p.Ala74Pro Uncertain significance ★★ ⚠ same type
- AAGAB p.Arg161Gln Uncertain significance ★★ ⚠ same type
- AAGAB p.Leu92Val 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/aagab-p-arg223 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown