CTSD p.Val156Met
c.465_466inv · VCV568230
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.7 | GERP 0.23, phastCons 1 |
| Regional constraint | o/e 0.87 | unconstrained · MANE · 10 kb · p 0.0029 · regional, not allelic |
Variant & gene context
- Gene
- CTSD
- Protein
- p.Val156Met
- Coding
- c.465_466inv
- MANE Select
- NM_001909
- Type
- Inversion
- Location
- chr11:1758974 (GRCh38)
- Gene constraint
- LOEUF 0.886 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.69 · 9 PDB
- Residue 156
- a disulfide bond; a β-strand; the peptidase a1 domain
Similar variants
- CTSD p.Val156fs Pathogenic ★ same residue
- CTSD p.Val156= Likely benign ★ same residue
- CTSD c.228+1G>A Likely pathogenic ★★ same condition
- CTSD p.Gln90fs Pathogenic/Likely pathogenic ★★ same condition
- CTSD p.Glu82Ter Pathogenic/Likely pathogenic ★★ same condition
- CTSD p.Leu11fs Pathogenic ★★ same condition
- CTSD p.Val318fs Pathogenic/Likely pathogenic ★★ same condition
- CTSD p.Val52fs 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/ctsd-p-val156met (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown