Is MAPK10 p.Tyr8= (c.24C>T) pathogenic?

MAPK10 p.Tyr8= (c.24C>T) is classified Likely benign in MAPK10 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-10-19). Very rare (popmax 0.00133%, afr).

How common is MAPK10 p.Tyr8= (c.24C>T) in the general population?

MAPK10 p.Tyr8= (c.24C>T) is very rare (popmax 0.00133%, afr) (gnomAD).

MAPK10 p.Tyr8=

c.24C>T · rs1582489589 · VCV793018

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00133%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 9.8	phastCons 1
Overall
CADD	12.12	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/74,978 alleles

Filtering AF 7.9e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.4e-05%

Overall 0.00031% 5/1,612,060 alleles · very rare exomes 5/1,459,818 · genomes 0/152,242 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00133%	74,978
European (non-Finnish)	0.00034%	294,548

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: MAPK10
Protein: p.Tyr8=
Coding: c.24C>T
MANE Select: NM_138982
dbSNP: rs1582489589
Type: single nucleotide variant
Location: chr4:86194378 (GRCh38)

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

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-tyr8 (accessed [today's date]).

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