IMPG2 p.Val45fs
c.132del · VCV4710465
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 2 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.012 | GERP -3.5, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- IMPG2
- Protein
- p.Val45fs
- Coding
- c.132del
- MANE Select
- NM_016247
- Type
- Deletion
- Location
- chr3:101319786 (GRCh38)
- Gene constraint
- LOEUF 0.773 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.28
Similar variants
- IMPG2 p.Asn755_Tyr756insTer Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Glu745fs Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Glu914fs Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Ile14_Leu15insTer Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Phe437fs Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Ser804_Ala805insTer Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Val553fs Pathogenic ★★ same type
- IMPG2 c.1240-3del Benign/Likely benign ★★ 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/impg2-p-val45fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown