IDS p.Lys211fs
c.632del · rs2520863360 · VCV1752893
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 5 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP 0.41, 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
- IDS
- Protein
- p.Lys211fs
- Coding
- c.632del
- MANE Select
- NM_000202
- dbSNP
- rs2520863360
- Type
- Deletion
- Location
- chrX:149498183 (GRCh38)
- Structure
- AlphaFold pLDDT 93.39 · 2 PDB
- Residue 211
- an α-helix
Similar variants
- IDS c.418+1_418+4del Pathogenic ★★ same condition
- IDS p.Arg468fs Pathogenic/Likely pathogenic ★★ same condition
- IDS p.Arg8fs Pathogenic ★★ same condition
- IDS p.Arg96del Likely pathogenic ★★ same condition
- IDS p.Asn280fs Pathogenic ★★ same condition
- IDS p.Asp319fs Pathogenic ★★ same condition
- IDS p.Gln474fs Pathogenic/Likely pathogenic ★★ same condition
- IDS p.Gly489fs 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/ids-p-lys211fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown