HBB p.Val19=
c.57G>A · rs1554918177 · VCV496001
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.71 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.39 | loss · gain 0.33 · SpliceAI calls gain · independent |
| Constraint at this position | ||
| Conservation | phyloP -0.22 | GERP -1.1 |
| Overall | ||
| CADD | 19.31 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- HBB
- Protein
- p.Val19=
- Coding
- c.57G>A
- MANE Select
- NM_000518
- dbSNP
- rs1554918177
- Type
- single nucleotide variant
- Location
- chr11:5226965 (GRCh38)
- Gene constraint
- LOEUF 1.964 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.09 · 350 PDB
- Residue 19
- the globin domain; a UniProt-annotated variant site (in baden; slightly unstable)
Similar variants
- HBB p.Val19Gly Uncertain significance ★★ ⚠ same residue
- HBB c.316-146T>G Pathogenic ★★★ same type
- HBB c.316-197C>T Pathogenic ★★★ same type
- HBB c.92+5G>C Pathogenic ★★★ same type
- HBB c.-78A>C Pathogenic ★★★ same type
- HBB c.*111A>G Pathogenic ★★★ same type
- HBB p.Ala28Ser Pathogenic ★★★ ⚠ same type
- HBB p.Lys18Ter 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-val19 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown