CDK19 p.Ile241fs
c.722del · rs2535338533 · VCV2136079
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 7 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP -5, phastCons 1 |
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
- CDK19
- Protein
- p.Ile241fs
- Coding
- c.722del
- MANE Select
- NM_015076
- dbSNP
- rs2535338533
- Type
- Deletion
- Location
- chr6:110627070 (GRCh38)
- Gene constraint
- LOEUF 0.655 · pLI 0.49 (gnomAD)
- Structure
- AlphaFold pLDDT 77.97
- Residue 241
- the protein kinase domain
Similar variants
- CDK19 c.128+28397_204+4425del Likely pathogenic ★ same type
- CDK19 p.Gln388_Gln394del Uncertain significance ★ same type
- CDK19 p.Leu96fs Uncertain significance ★ same type
- CDK19 c.514+10del 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/cdk19-p-ile241fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown