HBB p.Val24del
c.71_73del · rs34160180 · VCV15166
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
hemoglobinopathy
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 3.9 | GERP 1.9, phastCons 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.Val24del
- Coding
- c.71_73del
- MANE Select
- NM_000518
- dbSNP
- rs34160180
- Type
- Deletion
- Location
- chr11:5226949 (GRCh38)
- Gene constraint
- LOEUF 1.964 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.09 · 350 PDB
- Residue 24
- an α-helix; the globin domain; a UniProt-annotated variant site (in strasbourg; o(2) affinity up); a UniProt-annotated variant site (in palmerston north; o(2) affinity up; unstable); a UniProt-annotated variant site (in miyashiro; o(2) affinity up; unstable); a UniProt-annotated variant site (in freiburg)
Similar variants
- HBB p.His3fs Pathogenic/Likely pathogenic ★★ same condition
- HBB p.Lys18fs Pathogenic ★★ same condition
- HBB p.Phe46fs Pathogenic ★★ same condition
- HBB p.Pro52fs Pathogenic/Likely pathogenic ★★ same condition
- HBB p.Pro59fs Likely pathogenic ★★ same condition
- HBB p.Thr13fs Pathogenic ★★ same condition
- HBB p.Trp38fs Pathogenic ★★ same condition
- HBB c.76_92+27del 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-val24del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown