MEF2C p.Pro360Arg
c.1078_1079delinsAG · VCV3363582
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 2.5, phastCons 1 |
| Regional constraint | o/e 0.55 | unconstrained · MANE · 39 kb · p 1.1e-22 · regional, not allelic |
Variant & gene context
- Gene
- MEF2C
- Protein
- p.Pro360Arg
- Coding
- c.1078_1079delinsAG
- MANE Select
- NM_002397
- Type
- Indel
- Location
- chr5:88728514 (GRCh38)
- Gene constraint
- LOEUF 0.212 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 56.80
Similar variants
- MEF2C c.835-1_835delinsAT Pathogenic ★ same type
- MEF2C p.Glu71fs Pathogenic ★ same type
- MEF2C p.His109fs Likely pathogenic ★ same type
- MEF2C p.Ser459fs Uncertain significance ★ same type
- MEF2C p.Thr205fs Uncertain significance ★ same type
- MEF2C c.258+13_258+14delinsAT 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/mef2c-p-pro360arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown