ABCA4 p.Trp1449fs
c.4340_4343dup · rs1660166963 · VCV2707588
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 29 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -1.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- ABCA4
- Protein
- p.Trp1449fs
- Coding
- c.4340_4343dup
- MANE Select
- NM_000350
- dbSNP
- rs1660166963
- Type
- Microsatellite
- Location
- chr1:94030436 (GRCh38)
- Gene constraint
- LOEUF 0.786 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.96 · 8 PDB
- Residue 1449
- a UniProt-annotated variant site (in cord3; uncertain significance); a UniProt-annotated variant site (in stgd1; uncertain significance); a UniProt-annotated variant site (found in a patient with chorioretinal atrophy; uncertain significance); a UniProt-annotated variant site (found in a patient with macular dystrophy; uncertain significance)
Similar variants
- ABCA4 p.Trp1449Arg Uncertain significance ★ ⚠ same residue
- ABCA4 p.Trp1449Cys Conflicting classifications of pathogenicity ★ ⚠ same residue
- ABCA4 p.Arg2201fs Pathogenic ★★★ same type
- ABCA4 p.Gly766del Pathogenic/Likely pathogenic ★★ same type
- ABCA4 p.Leu541fs Pathogenic/Likely pathogenic ★★ same type
- ABCA4 p.Phe1417del Pathogenic ★★ same type
- ABCA4 p.Ser2080fs Pathogenic/Likely pathogenic ★★ same type
- ABCA4 p.Ser34_Leu35del Pathogenic/Likely pathogenic ★★ 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/abca4-p-trp1449fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown