ABCA4 p.Cys641Phe
c.1922_1923delinsTT · VCV4900140
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
ABCA4-related disorder
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 2.1 | GERP 0.003, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 128 kb · p 0.24 · regional, not allelic |
Variant & gene context
- Gene
- ABCA4
- Protein
- p.Cys641Phe
- Coding
- c.1922_1923delinsTT
- MANE Select
- NM_000350
- Type
- Indel
- Location
- chr1:94062591 (GRCh38)
- Gene constraint
- LOEUF 0.786 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.96 · 8 PDB
- Residue 641
- 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 disulfide bond
Similar variants
- ABCA4 p.Cys641Ter Pathogenic/Likely pathogenic ★★ same residue
- ABCA4 p.Ala1131fs Pathogenic ★★ same condition
- ABCA4 p.Cys641Gly Uncertain significance ★★ ⚠ same residue
- ABCA4 c.2744-3_2744-2delinsG Likely pathogenic ★ same condition
- ABCA4 p.Gly2146_Ala2147delinsValPro Likely pathogenic ★ same condition
- ABCA4 p.Pro1593_Thr1595delinsPheTer Likely pathogenic ★ same condition
- ABCA4 p.Cys641Arg Uncertain significance ★ ⚠ same residue
- ABCA4 p.Cys641Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
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-cys641phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown