IMPG2 p.Ala978Met
c.2932_2933delinsAT · rs1706424353 · VCV851262
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 8.5 | GERP 2.6, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 93 kb · p 0.41 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- IMPG2
- Protein
- p.Ala978Met
- Coding
- c.2932_2933delinsAT
- MANE Select
- NM_016247
- dbSNP
- rs1706424353
- Type
- Indel
- Location
- chr3:101242777 (GRCh38)
- Gene constraint
- LOEUF 0.773 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.28
- Residue 978
- a UniProt-annotated variant site (in rp56); a UniProt-annotated variant site (in vmd5); the sea 2 domain
Similar variants
- IMPG2 p.Ala978Thr Uncertain significance ★★ ⚠ same residue
- IMPG2 p.Ala978Val Uncertain significance ★★ ⚠ same residue
- IMPG2 p.Ala978= Likely benign ★ same residue
- IMPG2 p.Tyr1001_Ser1002delinsTer Pathogenic/Likely pathogenic ★★ same type
- IMPG2 p.Ala741Tyr Uncertain significance ★★ same type
- IMPG2 c.81_85+7delinsT Likely pathogenic ★ same type
- IMPG2 c.829-3_829-1delinsT Likely pathogenic ★ same type
- IMPG2 p.Thr490Asn Uncertain significance ★ 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-ala978met (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown