Is MAPK14 p.Val282= (c.846C>T) pathogenic?

MAPK14 p.Val282= (c.846C>T) is classified Likely benign in MAPK14 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-07). Ultra-rare (popmax 0.0344%, mid).

How common is MAPK14 p.Val282= (c.846C>T) in the general population?

MAPK14 p.Val282= (c.846C>T) is ultra-rare (popmax 0.0344%, mid) (gnomAD).

MAPK14 p.Val282=

c.846C>T · VCV3870426

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0344%, mid)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.178	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -6.8	GERP -4.8
Overall
CADD	2.777	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0344% Middle Eastern · 2/5,810 alleles

Filtering AF 0.0175% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.014%

Overall 0.00293% 45/1,535,812 alleles · ultra-rare exomes 30/1,383,560 · genomes 15/152,252 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0344%	2,905
Admixed American	0.0291%	3,441
African / African-American	0.0208%	4,817
Remaining individualsnot grpmax-eligible	0.00846%	11,822
East Asian	0.0071%	14,091
South Asian	0.00261%	38,308
European (non-Finnish)	0.000351%	285,278

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.Val282=
Coding: c.846C>T
MANE Select: NM_139012
Type: single nucleotide variant
Location: chr6:36107459 (GRCh38)
Gene constraint: LOEUF 0.564 · pLI 0.91 (gnomAD)
Structure: AlphaFold pLDDT 89.91 · 267 PDB
Residue 282: the protein kinase domain; an α-helix

Full MAPK14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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-val282 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown