MAPKAPK3 p.Arg112Phe
c.334_335delinsTT · VCV3670832
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 3.4 | GERP 2.3, phastCons 1 |
| Regional constraint | o/e 0.57 | unconstrained · MANE · 1,880 bp · p 3.2e-05 · regional, not allelic |
Variant & gene context
- Gene
- MAPKAPK3
- Protein
- p.Arg112Phe
- Coding
- c.334_335delinsTT
- MANE Select
- NM_001243925
- Type
- Indel
- Location
- chr3:50640480 (GRCh38)
- Gene constraint
- LOEUF 0.943 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.10 · 5 PDB
- Residue 112
- the protein kinase domain; a β-strand
Similar variants
- MAPKAPK3 p.Arg112His Uncertain significance ★★ ⚠ same residue
- MAPKAPK3 p.Arg112Cys Uncertain significance ★ ⚠ same residue
- MAPKAPK3 p.Glu84Arg Uncertain significance ★ same type
- MAPKAPK3 p.Ile154Asn Uncertain significance ★ same type
- MAPKAPK3 p.Tyr346Gln 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/mapkapk3-p-arg112phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown