MAP2K1 p.Val393del
c.1177_1179del · VCV4735035
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
RASopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
Variant & gene context
- Gene
- MAP2K1
- Protein
- p.Val393del
- Coding
- c.1177_1179del
- MANE Select
- NM_002755
- Type
- Deletion
- Location
- chr15:66490609 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI 0.97 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 84.05 · 99 PDB
Similar variants
- MAP2K1 p.Val393Ile Conflicting classifications of pathogenicity ★ ⚠ same residue
- MAP2K1 p.Lys59del Likely pathogenic ★★ same condition
- MAP2K1 p.Gly281del Uncertain significance ★★ same condition
- MAP2K1 c.292-13del Benign ★★ same condition
- MAP2K1 c.896-5del Likely benign ★★ same condition
- MAP2K1 c.1023-11_1023-4del Uncertain significance ★ same condition
- MAP2K1 p.Gln46fs Uncertain significance ★ same condition
- MAP2K1 p.Glu44_Leu54del Uncertain significance ★ same condition
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-val393del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown