TULP1 p.Val226fs
c.676_679delinsATT · rs1761157188 · VCV970253
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 7 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.46 | GERP -0.51 |
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
- TULP1
- Protein
- p.Val226fs
- Coding
- c.676_679delinsATT
- MANE Select
- NM_003322
- dbSNP
- rs1761157188
- Type
- Indel
- Location
- chr6:35509673 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.10 · 2 PDB
- Residue 226
- the 'disordered' region
Similar variants
- TULP1 c.183_190+70delinsA Likely pathogenic ★ same type
- TULP1 p.Ala81fs Likely pathogenic ★ same type
- TULP1 c.1113-9_1113delinsCATC Conflicting classifications of pathogenicity ★ same type
- TULP1 p.Lys261_Ser262delinsAsnArg Uncertain significance ★ same type
- TULP1 p.Pro70_Arg71= Likely benign ★ same type
- TULP1 p.Thr67Arg Likely benign ★ 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-val226fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown