MAPK14 p.Thr298=
c.894A>G · rs759715780 · VCV3123245
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0661%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.072 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -4.1 | GERP -4.8 |
| Overall | ||
| CADD | 0.467 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0661%
Admixed American · 38/57,522 alleles
Filtering AF
0.0494%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0437%
Overall
0.00244%
39/1,597,242 alleles · ultra-rare
exomes 36/1,445,002 · genomes 3/152,240 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0661% | 1,514 |
| European (non-Finnish) | 8.53e-05% | 1,172,239 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MAPK14
- Protein
- p.Thr298=
- Coding
- c.894A>G
- MANE Select
- NM_139012
- dbSNP
- rs759715780
- Type
- single nucleotide variant
- Location
- chr6:36107507 (GRCh38)
- Gene constraint
- LOEUF 0.564 · pLI 0.91 (gnomAD)
- Structure
- AlphaFold pLDDT 89.91 · 267 PDB
- Residue 298
- the protein kinase domain
Similar variants
- MAPK14 c.763-2308A>G Uncertain significance ★ same type
- MAPK14 c.763-2312A>G Uncertain significance ★ same type
- MAPK14 c.763-2316G>A Uncertain significance ★ same type
- MAPK14 c.763-2341C>G Uncertain significance ★ same type
- MAPK14 c.763-2356G>A Uncertain significance ★ same type
- MAPK14 p.Ala304Val Uncertain significance ★ ⚠ same type
- MAPK14 p.Ala41Thr Uncertain significance ★ ⚠ same type
- MAPK14 p.Arg10Pro 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/mapk14-p-thr298 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown