GALT p.Pro66fs
c.192_195dup · VCV4716448
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
classic galactosemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.79 | GERP 0.78 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GALT
- Protein
- p.Pro66fs
- Coding
- c.192_195dup
- MANE Select
- NM_000155
- Type
- Duplication
- Location
- chr9:34647197 (GRCh38)
- Gene constraint
- LOEUF 0.935 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 92.08 · 2 PDB
- Residue 66
- an α-helix
Disease context
classic galactosemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Classic galactosemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- GALT p.Pro66Leu Uncertain significance ★★ ⚠ same residue
- GALT p.Ala149fs Pathogenic ★★ same condition
- GALT p.Asn72fs Pathogenic/Likely pathogenic ★★ same condition
- GALT p.Leu255fs Pathogenic/Likely pathogenic ★★ same condition
- GALT p.Gln88fs Pathogenic ★ same condition
- GALT p.Glu159fs Pathogenic ★ same condition
- GALT p.Glu308fs Likely pathogenic ★ same condition
- GALT p.Met219fs 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/galt-p-pro66fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown