CDC14A p.Pro205del
c.614_616del · VCV4281522
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 11 | GERP 2.9, phastCons 1 |
Variant & gene context
- Gene
- CDC14A
- Protein
- p.Pro205del
- Coding
- c.614_616del
- MANE Select
- NM_003672
- Type
- Deletion
- Location
- chr1:100462655 (GRCh38)
- Gene constraint
- LOEUF 1.141 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.77
- Residue 205
- the tyrosine-protein phosphatase domain; a UniProt-annotated variant site (in dfnb32); the 'b' region
Similar variants
- CDC14A p.Pro205Ser Uncertain significance ★ ⚠ same residue
- CDC14A p.Ala451fs Pathogenic ★ same type
- CDC14A p.Tyr126fs Pathogenic ★ same type
- CDC14A c.1299-2del Uncertain significance ★ same type
- CDC14A c.1755+108del Uncertain significance ★ same type
- CDC14A p.Ala458fs Uncertain significance ★ same type
- CDC14A p.Ile183_Val184del Uncertain significance ★ same type
- CDC14A p.Ser575fs Uncertain significance ★ 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/cdc14a-p-pro205del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown