DUSP28 p.Val113Leu
c.337G>C · rs2536134938 · VCV3086307
⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4548 | ambiguous |
|---|---|---|
| REVEL | 0.352 | indeterminate |
| SaProt | LLR -8.49 | tolerated |
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
| Constraint at this position | ||
| Conservation | phyloP 4.5 | GERP 1.3, phastCons 1 |
| Regional constraint | o/e 1.38 | unconstrained · MANE · 779 bp · p 4.4e-10 · regional, not allelic |
| Overall | ||
| CADD | 14.4 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,537,250). 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
- DUSP28
- Protein
- p.Val113Leu
- Coding
- c.337G>C
- MANE Select
- NM_001370465
- dbSNP
- rs2536134938
- Type
- single nucleotide variant
- Location
- chr2:240561021 (GRCh38)
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/dusp28-p-val113leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown