ABR p.Ala693=
c.2079G>A · rs149677223 · VCV2647181
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.484%, 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 -8.5 | GERP -4.3 |
| Overall | ||
| CADD | 0.398 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.484%
European (non-Finnish) · 5,640/1,164,300 alleles
Filtering AF
0.474%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.47%
Overall
0.411%
6,540/1,591,812 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.484% | 206 |
| Ashkenazi Jewishnot grpmax-eligible | 0.398% | 251 |
| Remaining individualsnot grpmax-eligible | 0.356% | 281 |
| African / African-American | 0.246% | 406 |
| Finnishnot grpmax-eligible | 0.207% | 484 |
| Admixed American | 0.176% | 567 |
| South Asian | 0.154% | 650 |
| Middle Eastern | 0.134% | 747 |
| East Asian | 0.00676% | 14,793 |
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
- ABR
- Protein
- p.Ala693=
- Coding
- c.2079G>A
- MANE Select
- NM_021962
- dbSNP
- rs149677223
- Type
- single nucleotide variant
- Location
- chr17:1011868 (GRCh38)
- Gene constraint
- LOEUF 0.431 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.10
- Residue 693
- the rho-gap domain
Similar variants
- ABR c.2490+4C>T Benign ★★ same type
- ABR p.Ala31Glu Benign ★★ same type
- ABR p.Arg124Gln Benign ★★ same type
- ABR p.Glu73Asp Benign ★★ same type
- ABR p.Gly114Glu Benign ★★ same type
- ABR p.Gly66= Benign ★★ same type
- ABR p.Ala62Thr Uncertain significance ★ ⚠ same type
- ABR p.Ala688Thr 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/abr-p-ala693 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown