TULP1 p.Ile367del
c.1099_1101del · rs2150925211 · VCV1357647
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 7.7 | GERP 1.9, phastCons 1 |
Population frequency
dbSNP / gnomAD
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
- TULP1
- Protein
- p.Ile367del
- Coding
- c.1099_1101del
- MANE Select
- NM_003322
- dbSNP
- rs2150925211
- Type
- Deletion
- Location
- chr6:35505752 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.10 · 2 PDB
- Residue 367
- a β-strand
Similar variants
- TULP1 p.Ile367= Likely benign ★★ 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
- TULP1 p.Ser210fs 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-ile367del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown