ASAH1 p.Val77fs
c.223_229dup · VCV4714056
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ASAH1
- Protein
- p.Val77fs
- Coding
- c.223_229dup
- MANE Select
- NM_177924
- Type
- Duplication
- Location
- chr8:18069865 (GRCh38)
- Gene constraint
- LOEUF 1.435 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.97 · 2 PDB
- Residue 77
- a disulfide bond; an α-helix
Similar variants
- ASAH1 p.Val77Leu Uncertain significance ★ ⚠ same residue
- ASAH1 p.Val77Met Uncertain significance ★ ⚠ same residue
- ASAH1 p.Tyr59fs Pathogenic ★★ same type
- ASAH1 p.Ala120fs Likely pathogenic ★ same type
- ASAH1 p.Asp322fs Pathogenic ★ same type
- ASAH1 p.Cys18fs Pathogenic ★ same type
- ASAH1 p.Gly153fs Pathogenic ★ same type
- ASAH1 p.Ile294fs 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-val77fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown