Is MAPKAPK5 p.Arg450= (c.1350A>G) pathogenic?

MAPKAPK5 p.Arg450= (c.1350A>G) is classified Likely benign in MAPKAPK5 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-24). No allele count reported in gnomAD v4.1 (AN 1,581,438).

How common is MAPKAPK5 p.Arg450= (c.1350A>G) in the general population?

MAPKAPK5 p.Arg450= (c.1350A>G) is no allele count reported in gnomAD v4.1 (AN 1,581,438) (gnomAD).

MAPKAPK5 p.Arg450=

c.1350A>G · VCV4918602

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 1,581,438)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 4.7	GERP 0.73, phastCons 1
Overall
CADD	10.42	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,581,438). 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: MAPKAPK5
Protein: p.Arg450=
Coding: c.1350A>G
MANE Select: NM_003668
Type: single nucleotide variant
Location: chr12:111892995 (GRCh38)
Gene constraint: LOEUF 0.604 · pLI 0.28 (gnomAD)
Structure: AlphaFold pLDDT 78.84

Full MAPKAPK5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

MAPKAPK5 p.Asn339Lys Uncertain significance ★★ ⚠ same type
MAPKAPK5 p.Leu235= Likely benign ★★ same type
MAPKAPK5 p.Ala10Thr Uncertain significance ★ ⚠ same type
MAPKAPK5 p.Ala10Val Uncertain significance ★ ⚠ same type
MAPKAPK5 p.Ala197Val Uncertain significance ★ ⚠ same type
MAPKAPK5 p.Ala324Val Uncertain significance ★ ⚠ same type
MAPKAPK5 p.Ala389Val Uncertain significance ★ ⚠ same type
MAPKAPK5 p.Arg442Cys 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/mapkapk5-p-arg450 (accessed [today's date]).

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