CDK13 p.Arg280Ser
c.838_839delinsTC · VCV4748163
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 4.6 | GERP 0.28, phastCons 1 |
| Regional constraint | o/e 1.13 | unconstrained · MANE · 47 kb · p 8.4e-05 · regional, not allelic |
Variant & gene context
- Gene
- CDK13
- Protein
- p.Arg280Ser
- Coding
- c.838_839delinsTC
- MANE Select
- NM_003718
- Type
- Indel
- Location
- chr7:39951479 (GRCh38)
- Gene constraint
- LOEUF 0.434 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 50.59 · 2 PDB
- Residue 280
- the 'disordered' region
Similar variants
- CDK13 p.Arg280Gly Uncertain significance ★ ⚠ same residue
- CDK13 p.Ala1347Phe Uncertain significance ★ same type
- CDK13 p.Arg357Ser Uncertain significance ★ same type
- CDK13 p.Asp1293_His1295delinsGlyGluAsp Uncertain significance ★ same type
- CDK13 p.Gln222delinsArgArgAspGlyHis Uncertain significance ★ same type
- CDK13 p.Ser1162Pro Uncertain significance ★ same type
- CDK13 p.Ser236_Gly239delinsIleHisSerSer Uncertain significance ★ same type
- CDK13 p.Gln1125Pro 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/cdk13-p-arg280ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown