ACP4 p.Val146fs
c.435del · VCV4687881
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
amelogenesis imperfecta, type 1J
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 4 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -1.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACP4
- Protein
- p.Val146fs
- Coding
- c.435del
- MANE Select
- NM_033068
- Type
- Deletion
- Location
- chr19:50791785 (GRCh38)
- Gene constraint
- LOEUF 1.413 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.30
Similar variants
- ACP4 c.984_986+1del Likely pathogenic ★ same condition
- ACP4 p.Arg111Cys Pathogenic/Likely pathogenic ★★ same condition
- ACP4 c.645+1G>A Likely pathogenic ★ same condition
- ACP4 p.Leu85Pro Pathogenic ★ same condition
- ACP4 p.Met282Thr Pathogenic ★ ⚠ same condition
- ACP4 p.Pro249Leu Pathogenic ★ ⚠ same condition
- ACP4 p.Val246Met Likely pathogenic ★ ⚠ same condition
- ACP4 p.Ala400Asp 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/acp4-p-val146fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown