ABR p.Glu73Asp
c.219G>C · rs148570528 · VCV768812
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 34.2%, afr) — too common for a highly-penetrant pathogenic allele
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 | GERP -3.7 |
| Overall | ||
| CADD | 4.936 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
34.2%
African / African-American · 13,035/38,148 alleles
Filtering AF
33.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 33.5%
Overall
27.2%
40,040/147,438 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 34.2% | 3 |
| South Asian | 33.8% | 3 |
| Finnishnot grpmax-eligible | 32.1% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 26.8% | 4 |
| Remaining individualsnot grpmax-eligible | 25.1% | 4 |
| European (non-Finnish) | 24.6% | 4 |
| Middle Eastern | 22.4% | 4 |
| Admixed American | 19.4% | 5 |
| East Asian | 18.2% | 5 |
| Amishnot grpmax-eligible | 14% | 7 |
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.Glu73Asp
- Coding
- c.219G>C
- MANE Select
- NM_021962 · reported on NM_001322841
- dbSNP
- rs148570528
- Type
- single nucleotide variant
- Location
- chr17:1229412 (GRCh38)
- Gene constraint
- LOEUF 0.431 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.10
- Residue 73
- the 'disordered' region
Similar variants
- ABR c.2490+4C>T Benign ★★ same type
- ABR p.Ala31Glu Benign ★★ same type
- ABR p.Arg124Gln 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
- ABR p.Ala718Thr 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-glu73asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown