GPAA1 p.Pro88fs
c.262_272del · VCV4810179
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 3 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -4.6 | GERP -2.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GPAA1
- Protein
- p.Pro88fs
- Coding
- c.262_272del
- MANE Select
- NM_003801
- Type
- Deletion
- Location
- chr8:144083393 (GRCh38)
- Gene constraint
- LOEUF 1.077 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.48 · 4 PDB
Similar variants
- GPAA1 c.1011-2_1011-1del Likely pathogenic ★★ same type
- GPAA1 p.Arg15fs Pathogenic/Likely pathogenic ★★ same type
- GPAA1 p.Met207fs Pathogenic ★★ same type
- GPAA1 p.Gly270fs Pathogenic ★ same type
- GPAA1 p.Gly307fs Pathogenic ★ same type
- GPAA1 p.Gly336fs Pathogenic ★ same type
- GPAA1 p.Gly408fs Pathogenic ★ same type
- GPAA1 p.Leu190fs 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/gpaa1-p-pro88fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown