HBA2 p.Ser132Pro
c.394T>C · VCV3382076
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
4
erythrocytosis, familial, 7
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.559 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -20 | |
| Regional constraint | o/e 0.80 | unconstrained · MANE · 125 bp · p 0.14 · regional, not allelic |
| Overall | ||
| CADD | 2.912 | 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
- HBA2
- Protein
- p.Ser132Pro
- Coding
- c.394T>C
- MANE Select
- NM_000517
- Type
- single nucleotide variant
- Location
- chr16:173565 (GRCh38)
- Gene constraint
- LOEUF 1.915 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 98.04 · 348 PDB
- Residue 132
- a UniProt-annotated variant site (in questembert; highly unstable; causes alpha-thalassemia); an α-helix; the globin domain; a modified residue (phosphoserine)
Similar variants
- HBA2 p.Cys105Arg Likely pathogenic ★★★ same condition
- HBA2 p.Leu126Arg Likely pathogenic ★★★ same condition
- HBA2 c.-24C>G Benign ★★★ same condition
- HBA2 c.*107A>G Benign ★★★ same condition
- HBA2 c.300+1G>A Likely pathogenic ★★ same condition
- HBA2 c.95+1G>A Pathogenic ★★ same condition
- HBA2 c.95+1G>C Pathogenic ★★ same condition
- HBA2 c.96-2A>G 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/hba2-p-ser132pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown