MAP2K2 c.93_114del
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 5 | GERP 1.6, phastCons 1 |
Variant & gene context
- Gene
- MAP2K2
- Coding
- c.93_114del
- MANE Select
- NM_030662
- Type
- Deletion
- Location
- chr19:4117608 (GRCh38)
- Gene constraint
- LOEUF 0.858 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.54 · 3 PDB
Similar variants
- MAP2K2 p.Leu54fs Uncertain significance ★★ same type
- MAP2K2 c.303+15del Benign/Likely benign ★★ same type
- MAP2K2 p.Asp71del Pathogenic ★ same type
- MAP2K2 c.1046+5_1046+8del Uncertain significance ★ same type
- MAP2K2 c.1046+5del Uncertain significance ★ same type
- MAP2K2 c.578_580+9del Uncertain significance ★ same type
- MAP2K2 p.Ala162fs Uncertain significance ★ same type
- MAP2K2 p.Arg303fs 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/map2k2-c-93-114del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown