ODAPH p.Pro76fs
c.225dup · VCV4813733
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
amelogenesis imperfecta hypomaturation type 2A4
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 (2 of 2) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.025 | GERP -5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ODAPH
- Protein
- p.Pro76fs
- Coding
- c.225dup
- MANE Select
- NM_178497
- Type
- Duplication
- Location
- chr4:75564264 (GRCh38)
- Gene constraint
- LOEUF 1.704 · pLI 0.07 (gnomAD)
- Structure
- AlphaFold pLDDT 61.64
Similar variants
- C4orf26 c.318G>A Likely pathogenic ★ same condition
- ODAPH p.Arg77Ter Pathogenic ★ same condition
- ODAPH p.Val18fs Likely pathogenic ★ same condition
- ODAPH c.68-2A>T Pathogenic same condition
- ODAPH p.Cys43Ter 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/odaph-p-pro76fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown