CDK13 p.Ala1347Phe
c.4039_4040delinsTT · rs2484073982 · VCV2616684
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Inborn genetic diseases
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 8 | GERP 2, phastCons 1 |
| Regional constraint | o/e 0.82 | unconstrained · MANE · 6,791 bp · p 1.5e-05 · regional, not allelic |
Population frequency
dbSNP / gnomAD
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
- CDK13
- Protein
- p.Ala1347Phe
- Coding
- c.4039_4040delinsTT
- MANE Select
- NM_003718
- dbSNP
- rs2484073982
- Type
- Indel
- Location
- chr7:40094480 (GRCh38)
- Gene constraint
- LOEUF 0.434 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 50.59 · 2 PDB
Similar variants
- CDK13 p.Ala1347Ser Uncertain significance ★ ⚠ same residue
- CDK13 p.Ala1347Val Uncertain significance ★ ⚠ same residue
- CDK13 p.Leu61fs Pathogenic/Likely pathogenic ★★ same condition
- CDK13 p.Ser177fs Pathogenic/Likely pathogenic ★★ same condition
- CDK13 p.Ala1301Val Uncertain significance ★★ ⚠ same condition
- CDK13 p.Ala134Val Uncertain significance ★★ ⚠ same condition
- CDK13 p.Ala182Val Uncertain significance ★★ ⚠ same condition
- CDK13 p.Ala331Val Uncertain significance ★★ ⚠ same condition
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-ala1347phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown