ASAH1 p.Arg32=
c.94A>C · rs1588999386 · VCV739757
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 4 | GERP 0.68, phastCons 1 |
| Overall | ||
| CADD | 12.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ASAH1
- Protein
- p.Arg32=
- Coding
- c.94A>C
- MANE Select
- NM_177924
- dbSNP
- rs1588999386
- Type
- single nucleotide variant
- Location
- chr8:18075572 (GRCh38)
- Gene constraint
- LOEUF 1.435 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.97 · 2 PDB
- Residue 32
- a disulfide bond; an α-helix
Similar variants
- ASAH1 p.Arg32Ser Uncertain significance ★★ ⚠ same residue
- ASAH1 p.Arg32Ter Likely pathogenic ★ same residue
- ASAH1 p.Arg32Ile Uncertain significance ★ ⚠ same residue
- ASAH1 p.Arg32Lys Uncertain significance ★ ⚠ same residue
- ASAH1 c.1098+1G>T Pathogenic/Likely pathogenic ★★ same type
- ASAH1 c.125+1G>A Pathogenic ★★ same type
- ASAH1 c.457+4A>G Pathogenic/Likely pathogenic ★★ same type
- ASAH1 c.648+1G>C Likely pathogenic ★★ 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/asah1-p-arg32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown