MAP2K2 p.Cys349=
c.1047C>T · VCV4874280
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,570,124)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.4 | GERP 0.46, phastCons 1 |
| Overall | ||
| CADD | 15.56 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,570,124). 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
- MAP2K2
- Protein
- p.Cys349=
- Coding
- c.1047C>T
- MANE Select
- NM_030662
- Type
- single nucleotide variant
- Location
- chr19:4094498 (GRCh38)
- Gene constraint
- LOEUF 0.858 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.54 · 3 PDB
- Residue 349
- the protein kinase domain; an α-helix
Similar variants
- MAP2K2 p.Glu207Lys Likely pathogenic ★★★ same type
- MAP2K2 p.Phe57Cys Pathogenic ★★★ same type
- MAP2K2 p.Phe57Val Pathogenic ★★★ same type
- MAP2K2 p.Pro128Gln Pathogenic ★★★ same type
- MAP2K2 p.Tyr134Cys Likely pathogenic ★★★ same type
- MAP2K2 p.Tyr134His Pathogenic ★★★ same type
- MAP2K2 p.Arg231His Uncertain significance ★★★ ⚠ same type
- MAP2K2 p.Arg231Leu 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-p-cys349 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown