AFF4 p.Ala1076Phe
c.3226_3227delinsTT · VCV4536186
Uncertain significance
Single submitter
Classification
Uncertain significance
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 7.9 | GERP 5.3, phastCons 1 |
| Regional constraint | o/e 0.59 | unconstrained · MANE · 8,017 bp · p 1.3e-12 · regional, not allelic |
Variant & gene context
- Gene
- AFF4
- Protein
- p.Ala1076Phe
- Coding
- c.3226_3227delinsTT
- MANE Select
- NM_014423
- Type
- Indel
- Location
- chr5:132883477 (GRCh38)
- Gene constraint
- LOEUF 0.114 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.62 · 9 PDB
Similar variants
- AFF4 p.Ala1076Thr Uncertain significance ★ ⚠ same residue
- AFF4 p.Arg507His Uncertain significance ★ same type
- AFF4 p.Asn191fs Uncertain significance ★ same type
- AFF4 p.Gly520_Pro521delinsValGluThrSer Uncertain significance 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/aff4-p-ala1076phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown