HBB p.Phe43del
c.127_129del · rs41417446 · VCV15121
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
3
beta thalassemia
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 0.34 | GERP 1 |
Population frequency
dbSNP / gnomAD
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
- HBB
- Protein
- p.Phe43del
- Coding
- c.127_129del
- MANE Select
- NM_000518
- dbSNP
- rs41417446
- Type
- Deletion
- Location
- chr11:5226763 (GRCh38)
- Gene constraint
- LOEUF 1.964 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.09 · 350 PDB
- Residue 43
- a UniProt-annotated variant site (in louisville; unstable); a UniProt-annotated variant site (in hammersmith); a UniProt-annotated variant site (in bruxelles); the globin domain
Similar variants
- HBB p.Phe43Ser Pathogenic ★★ same residue
- HBB p.Phe43fs Likely pathogenic ★ same residue
- HBB p.Phe43Leu Likely pathogenic ★ same residue
- HBB p.Phe43Ile Likely pathogenic same residue
- HBB c.315+2del Pathogenic/Likely pathogenic ★★ same condition
- HBB c.93-22_95del Pathogenic ★★ same condition
- HBB c.*110_*111del Pathogenic/Likely pathogenic ★★ same condition
- HBB c.*110_*114del Pathogenic/Likely pathogenic ★★ same condition
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-phe43del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown