HEXA p.Val97fs
c.289_290del · rs2140329051 · VCV1075310
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 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP -0.65, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- HEXA
- Protein
- p.Val97fs
- Coding
- c.289_290del
- MANE Select
- NM_000520
- dbSNP
- rs2140329051
- Type
- Deletion
- Location
- chr15:72356581 (GRCh38)
- Gene constraint
- LOEUF 0.947 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.62 · 2 PDB
- Residue 97
- a disulfide bond; a β-strand
Disease context
Tay-Sachs disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Tay-Sachs disease (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-5 / 10 000 (Specific population)
Similar variants
- HEXA p.Val97= Likely benign ★ same residue
- HEXA c.1525_1526+27del Pathogenic/Likely pathogenic ★★ same condition
- HEXA c.237_253+7del Pathogenic ★★ same condition
- HEXA p.Ala479fs Pathogenic/Likely pathogenic ★★ same condition
- HEXA p.Arg504fs Pathogenic ★★ same condition
- HEXA p.Asp395fs Pathogenic/Likely pathogenic ★★ same condition
- HEXA p.Gln390fs Pathogenic/Likely pathogenic ★★ same condition
- HEXA p.Glu375fs Pathogenic/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/hexa-p-val97fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown