Is MAPK10 p.Glu111= (c.333G>A) pathogenic?

MAPK10 p.Glu111= (c.333G>A) is classified Likely benign in MAPK10 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-11). Absent from gnomAD v4.1.

How common is MAPK10 p.Glu111= (c.333G>A) in the general population?

MAPK10 p.Glu111= (c.333G>A) is absent from gnomAD v4.1 (gnomAD).

MAPK10 p.Glu111=

c.333G>A · VCV4967651

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.332	indeterminate
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 1.1	GERP 0.22, phastCons 1
Overall
CADD	9.334	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MAPK10
Protein: p.Glu111=
Coding: c.333G>A
MANE Select: NM_138982
Type: single nucleotide variant
Location: chr4:86107256 (GRCh38)
Gene constraint: LOEUF 0.54 · pLI 0.91 (gnomAD)
Structure: AlphaFold pLDDT 80.50 · 65 PDB
Residue 111: the protein kinase domain; an α-helix

Full MAPK10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

MAPK10 p.Ala320= Benign ★★ same type
MAPK10 p.Asp351= Benign ★★ same type
MAPK10 p.Val113= Benign/Likely benign ★★ same type
MAPK10 p.Ala353Thr Uncertain significance ★ ⚠ same type
MAPK10 p.Asn89Ser Uncertain significance ★ ⚠ same type
MAPK10 p.Asp141Glu Uncertain significance ★ ⚠ same type
MAPK10 p.Asp267Gly Uncertain significance ★ ⚠ same type
MAPK10 p.Asp315Asn 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/mapk10-p-glu111 (accessed [today's date]).

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