ALPL p.His451del
c.1351_1353del · VCV4526551
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
adult hypophosphatasia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 8.7 | GERP 1.6, phastCons 1 |
Variant & gene context
- Gene
- ALPL
- Protein
- p.His451del
- Coding
- c.1351_1353del
- MANE Select
- NM_000478
- Type
- Deletion
- Location
- chr1:21577423 (GRCh38)
- Gene constraint
- LOEUF 0.987 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.74 · 5 PDB
Similar variants
- ALPL p.Ala492fs Pathogenic/Likely pathogenic ★★ same condition
- ALPL p.Arg272fs Pathogenic/Likely pathogenic ★★ same condition
- ALPL p.Asn190del Pathogenic/Likely pathogenic ★★ same condition
- ALPL p.Gln44fs Pathogenic ★★ same condition
- ALPL p.Gly221fs Pathogenic ★★ same condition
- ALPL p.Leu520fs Pathogenic ★★ same condition
- ALPL p.Lys322fs Pathogenic ★★ same condition
- ALPL p.Pro194fs Pathogenic/Likely pathogenic ★★ 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/alpl-p-his451del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown