HBB p.Ala28Phe
c.82_83delinsTT · VCV3767038
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 5 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 1,420 bp · p 0.11 · regional, not allelic |
Variant & gene context
- Gene
- HBB
- Protein
- p.Ala28Phe
- Coding
- c.82_83delinsTT
- MANE Select
- NM_000518
- Type
- Indel
- Location
- chr11:5226939 (GRCh38)
- Gene constraint
- LOEUF 1.964 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.09 · 350 PDB
- Residue 28
- a UniProt-annotated variant site (in volga/drenthe; unstable); a UniProt-annotated variant site (in knossos); a UniProt-annotated variant site (in grange-blanche; o(2) affinity up); an α-helix; the globin domain
Similar variants
- HBB p.Ala28Ser Pathogenic ★★★ ⚠ same residue
- HBB p.Ala28Asp Pathogenic ★ same residue
- HBB p.Ala28Val Uncertain significance ★ ⚠ same residue
- HBB p.Ala28= Likely benign ★ same residue
- HBB p.Ala28Thr Likely pathogenic ⚠ same residue
- HBB c.316-12_316-7delinsCTCCTA Pathogenic ★ same type
- HBB c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA Likely pathogenic ★ same type
- HBB p.Glu7Met 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/hbb-p-ala28phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown