ABCA4 p.Phe755del
c.2261TCT[1] · VCV3662936
Pathogenic
Single submitter
Classification
Pathogenic
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 8.6 | GERP 1.1, phastCons 1 |
Variant & gene context
- Gene
- ABCA4
- Protein
- p.Phe755del
- Coding
- c.2261TCT[1]
- MANE Select
- NM_000350
- Type
- Microsatellite
- Location
- chr1:94056717 (GRCh38)
- Gene constraint
- LOEUF 0.786 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.96 · 8 PDB
- Residue 755
- 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); a disulfide bond
Similar variants
- ABCA4 p.Phe755Leu Pathogenic ★ same residue
- ABCA4 p.Phe755Val Likely pathogenic ★ 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-phe755del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown