TULP1 p.Cys53fs
c.152_302del151 · VCV2062606
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 4 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP -0.53, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TULP1
- Protein
- p.Cys53fs
- Coding
- c.152_302del151
- MANE Select
- NM_003322
- Type
- Deletion
- Location
- chr6:35511690 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.10 · 2 PDB
- Residue 53
- the 'disordered' region
Similar variants
- TULP1 p.Cys53Ter Likely pathogenic ★ same residue
- TULP1 p.Cys53Arg Uncertain significance ★ ⚠ same residue
- TULP1 p.Arg419fs Pathogenic/Likely pathogenic ★★ same type
- TULP1 p.Gln485fs Pathogenic/Likely pathogenic ★★ same type
- TULP1 p.Leu504fs Pathogenic ★★ same type
- TULP1 p.Lys274fs Pathogenic/Likely pathogenic ★★ same type
- TULP1 p.Pro242fs Pathogenic ★★ same type
- TULP1 p.Pro282fs Pathogenic ★★ same type
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/tulp1-p-cys53fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown