LIPA p.Pro370fs
c.1109del · VCV4541561
Uncertain significance
Single submitter
Classification
Uncertain significance
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-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -6.8 | GERP -3.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- LIPA
- Protein
- p.Pro370fs
- Coding
- c.1109del
- MANE Select
- NM_000235
- Type
- Deletion
- Location
- chr10:89214919 (GRCh38)
- Structure
- AlphaFold pLDDT 89.74
Similar variants
- LIPA p.Pro370Ala Uncertain significance ★★ ⚠ same residue
- LIPA p.Pro370= Likely benign ★★ same residue
- LIPA p.Pro370Leu Uncertain significance ★ ⚠ same residue
- LIPA c.230-2del Likely pathogenic ★★ same type
- LIPA p.Asn161fs Pathogenic ★★ same type
- LIPA p.Asn268fs Pathogenic/Likely pathogenic ★★ same type
- LIPA p.Leu132_Ser133insTer Pathogenic ★★ same type
- LIPA p.Leu394fs Pathogenic/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/lipa-p-pro370fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown