AMACR p.Arg97=
c.289C>A · rs757072374 · VCV903704
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0117%, amr)
Conditions
1
alpha-methylacyl-CoA racemase deficiency
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 1.4 | GERP -1.7, phastCons 0.005 |
| Overall | ||
| CADD | 8.797 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0117%
Admixed American · 7/60,014 alleles
Filtering AF
0.00543%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0038%
Overall
0.00105%
17/1,614,060 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0117% | 8,573 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,504 |
| European (non-Finnish) | 0.000763% | 131,113 |
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
- AMACR
- Protein
- p.Arg97=
- Coding
- c.289C>A
- MANE Select
- NM_014324
- dbSNP
- rs757072374
- Type
- single nucleotide variant
- Location
- chr5:34005858 (GRCh38)
- Gene constraint
- LOEUF 1.239 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.79
Similar variants
- AMACR p.Arg97Pro Uncertain significance ★★ same residue
- AMACR p.Arg97Trp Uncertain significance ★★ same residue
- AMACR p.Arg97Gln Uncertain significance ⚠ same residue
- AMACR p.Ser52Pro Pathogenic/Likely pathogenic ★★ same condition
- AMACR c.*233T>C Uncertain significance ★★ same condition
- AMACR p.Ala15Pro Uncertain significance ★★ ⚠ same condition
- AMACR p.Ala189Glu Uncertain significance ★★ ⚠ same condition
- AMACR p.Arg106Lys Uncertain significance ★★ ⚠ same condition
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/amacr-p-arg97 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown