IDS p.Ala330fs
c.987_988del · VCV3285265
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.31 | GERP -3.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- IDS
- Protein
- p.Ala330fs
- Coding
- c.987_988del
- MANE Select
- NM_000202
- Type
- Deletion
- Location
- chrX:149490332 (GRCh38)
- Structure
- AlphaFold pLDDT 93.39 · 2 PDB
- Residue 330
- a β-strand
Similar variants
- IDS p.Lys211fs Pathogenic ★★ same condition
- IDS c.186_240+98del Pathogenic ★ same condition
- IDS p.Arg172Ter Pathogenic ★★ same condition
- IDS p.Asp269Val Pathogenic/Likely pathogenic ★★ same condition
- IDS p.Pro469Arg Likely pathogenic ★★ same condition
- IDS p.Ser71Arg Likely pathogenic ★★ same condition
- IDS p.Tyr499Ter Pathogenic/Likely pathogenic ★★ same condition
- IDS p.Ala317Asp Uncertain significance ★★ ⚠ 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/ids-p-ala330fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown