GALT p.Asp96=
c.288C>T · VCV3379859
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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 | Δ0.32 | donor loss, 40 bp away · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.30 | loss · gain 0.02 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 6.841 | 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
- GALT
- Protein
- p.Asp96=
- Coding
- c.288C>T
- MANE Select
- NM_000155
- Type
- single nucleotide variant
- Location
- chr9:34647527 (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 96
- a β-strand
Similar variants
- GALT p.Asp96His Uncertain significance ★ ⚠ same residue
- GALT c.1060-1G>A Pathogenic/Likely pathogenic ★★ same type
- GALT c.252+1G>A Pathogenic ★★ same type
- GALT c.253-1G>A Pathogenic/Likely pathogenic ★★ same type
- GALT c.253-2A>G Pathogenic ★★ same type
- GALT c.328+2T>G Pathogenic/Likely pathogenic ★★ same type
- GALT c.329-2A>C Pathogenic ★★ same type
- GALT c.377+1G>A 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/galt-p-asp96 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown