PRX p.Val223fs
c.667del · VCV3611669
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Charcot-Marie-Tooth disease type 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (7 of 7) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.51 | GERP -4.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PRX
- Protein
- p.Val223fs
- Coding
- c.667del
- MANE Select
- NM_181882
- Type
- Deletion
- Location
- chr19:40397685 (GRCh38)
- Gene constraint
- LOEUF 1.321 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 35.74 · 1 PDB
Similar variants
- PRX p.Val223Ala Uncertain significance ★ ⚠ same residue
- PRX p.Val223= Likely benign ★ same residue
- PRX p.Ala210fs Pathogenic ★★ same condition
- PRX p.Asp765fs Pathogenic/Likely pathogenic ★★ same condition
- PRX p.Ile1096fs Pathogenic/Likely pathogenic ★★ same condition
- PRX p.Lys930fs Pathogenic/Likely pathogenic ★★ same condition
- PRX p.Thr1033fs Pathogenic/Likely pathogenic ★★ same condition
- PRX p.Val525fs Pathogenic/Likely pathogenic ★★ 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/prx-p-val223fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown