CTSD p.Glu44fs
c.130del · VCV3641401
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
neuronal ceroid lipofuscinosis
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 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CTSD
- Protein
- p.Glu44fs
- Coding
- c.130del
- MANE Select
- NM_001909
- Type
- Deletion
- Location
- chr11:1761407 (GRCh38)
- Gene constraint
- LOEUF 0.886 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.69 · 9 PDB
Similar variants
- CTSD p.Gln90fs Pathogenic/Likely pathogenic ★★ same condition
- CTSD p.Val318fs Pathogenic/Likely pathogenic ★★ same condition
- CTSD p.Val52fs Pathogenic/Likely pathogenic ★★ same condition
- CTSD p.Pro381fs Uncertain significance ★★ same condition
- CTSD c.828-14_828-13del Benign/Likely benign ★★ same condition
- CTSD c.824_827+30del Likely pathogenic ★ same condition
- CTSD p.Ala18fs Pathogenic ★ same condition
- CTSD p.Ala317fs 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/ctsd-p-glu44fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown