MESP2 p.Trp280fs
c.837del · rs1968383130 · VCV2691628
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 2 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.4 | GERP -3.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- MESP2
- Protein
- p.Trp280fs
- Coding
- c.837del
- MANE Select
- NM_001039958
- dbSNP
- rs1968383130
- Type
- Deletion
- Location
- chr15:89777192 (GRCh38)
- Gene constraint
- LOEUF 1.656 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.92
- Residue 280
- the 'disordered' region
Similar variants
- MESP2 p.Trp280Ter Pathogenic ★ same residue
- MESP2 p.180_181QG[7] Benign/Likely benign ★★ same type
- MESP2 p.Arg341fs Likely pathogenic ★ same type
- MESP2 p.Gln180fs Likely pathogenic ★ same type
- MESP2 p.Gln182fs Likely pathogenic ★ same type
- MESP2 p.Gln186fs Likely pathogenic ★ same type
- MESP2 p.Gln190fs Likely pathogenic ★ same type
- MESP2 p.Gln200fs 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/mesp2-p-trp280fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown