MAPK1 p.Phe296=
c.888C>T · rs371304428 · VCV2571153
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00314%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP -2.4, phastCons 1 |
| Overall | ||
| CADD | 10.16 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00314%
European (non-Finnish) · 37/1,179,832 alleles
Filtering AF
0.00231%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00202%
Overall
0.00229%
37/1,613,832 alleles · very rare
exomes 36/1,461,644 · genomes 1/152,188 · joint denominator
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
- MAPK1
- Protein
- p.Phe296=
- Coding
- c.888C>T
- MANE Select
- NM_002745
- dbSNP
- rs371304428
- Type
- single nucleotide variant
- Location
- chr22:21772951 (GRCh38)
- Gene constraint
- LOEUF 0.377 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 90.99 · 157 PDB
- Residue 296
- the protein kinase domain
Similar variants
- MAPK1 p.Ala174Val Pathogenic ★★ ⚠ same type
- MAPK1 p.Arg135Thr Likely pathogenic ★★ same type
- MAPK1 p.Asp318Asn Pathogenic/Likely pathogenic ★★ same type
- MAPK1 p.Asp318Gly Pathogenic ★★ same type
- MAPK1 p.Glu322Gln Pathogenic/Likely pathogenic ★★ same type
- MAPK1 p.His80Tyr Pathogenic ★★ same type
- MAPK1 p.Asn27Asp Uncertain significance ★★ ⚠ same type
- MAPK1 p.Ala325= Likely benign ★★ 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/mapk1-p-phe296 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown