MAP2K1 p.Pro326fs
c.976_980del · VCV3781254
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MAP2K1
- Protein
- p.Pro326fs
- Coding
- c.976_980del
- MANE Select
- NM_002755
- Type
- Deletion
- Location
- chr15:66489229 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI 0.97 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 84.05 · 99 PDB
- Residue 326
- the protein kinase domain
Similar variants
- MAP2K1 p.Pro326= Likely benign ★ same residue
- MAP2K1 p.Gln58_Glu62del Pathogenic/Likely pathogenic ★★ same type
- MAP2K1 p.Ile103_Lys104del Pathogenic/Likely pathogenic ★★ same type
- MAP2K1 p.Lys59del Likely pathogenic ★★ same type
- MAP2K1 p.Gly281del Uncertain significance ★★ same type
- MAP2K1 c.292-13del Benign ★★ same type
- MAP2K1 c.896-5del Likely benign ★★ same type
- MAP2K1 p.Gln56_Val60del Likely pathogenic ★ 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/map2k1-p-pro326fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown